Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	546
Gene name	ATRX chromatin remodeler
Gene symbol	ATRX
Synonyms (NCBI Gene)	JMSMRX52RAD54RAD54LXH2XNPZNF-HX
Chromosome	X
Chromosome location	Xq21.1
Summary	The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and

Show/Hide all (79)

SNP ID	Visualize variation	Clinical significance	Consequence
rs45439799	T>C,G	Likely-benign, pathogenic, benign	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs122445093	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445094	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445095	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs122445096	T>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs122445097	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs122445098	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs122445099	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs122445100	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs122445101	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs122445102	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445103	G>C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445104	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445105	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445106	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445107	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs122445108	G>A	Pathogenic, pathogenic-likely-pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs122445109	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445110	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs122445111	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445112	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs142180002	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs142561199	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs145678415	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs145807475	T>G	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs146521598	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs149232501	C>A,G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs149249195	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200420513	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs200478641	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs370596323	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs371580333	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs398123420	T>C	Pathogenic	Splice acceptor variant
rs398123422	C>T	Pathogenic	Splice donor variant
rs398123424	TTTGAGATTTTC>A	Pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant
rs398123425	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123428	C>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs587776756	C>T	Pathogenic	Splice donor variant, 5 prime UTR variant
rs587780285	A>G,T	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs587780288	CTT>-	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, inframe deletion, coding sequence variant
rs781984385	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs782317502	T>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs797044563	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797044723	AT>-	Pathogenic-likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs797044865	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045406	TCATCT>-	Uncertain-significance, pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs886039493	C>-	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs886041700	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886041903	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886044898	C>A	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs1057517707	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1057517948	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1057517997	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057518225	C>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1057518708	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057524153	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060499658	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1060499759	A>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060499760	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064795090	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1135401793	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1287383551	C>A,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1557034957	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1557082399	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1557106482	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557106484	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557118764	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs1557142844	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557148369	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1569513017	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1569513021	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1569515457	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1569533321	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569535642	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant
rs1569539477	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1602876401	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1602979414	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1602996115	A>C	Pathogenic	Intron variant
rs1603240572	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant

483

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005165	hsa-miR-30a-5p	pSILAC	18668040
MIRT005165	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT030808	hsa-miR-21-5p	Microarray	18591254
MIRT050897	hsa-miR-17-5p	CLASH	23622248
MIRT043383	hsa-miR-331-3p	CLASH	23622248
MIRT040139	hsa-miR-615-3p	CLASH	23622248
MIRT038203	hsa-miR-342-5p	CLASH	23622248
MIRT054552	hsa-miR-200c-3p	Western blotqRT-PCR	23708087
MIRT054552	hsa-miR-200c-3p	Western blotqRT-PCR	23708087
MIRT054552	hsa-miR-200c-3p	Western blotqRT-PCR	23708087
MIRT054553	hsa-miR-200a-3p	Western blotqRT-PCR	23708087
MIRT054553	hsa-miR-200a-3p	Western blotqRT-PCR	23708087
MIRT054553	hsa-miR-200a-3p	Western blotqRT-PCR	23708087
MIRT810544	hsa-miR-101	CLIP-seq
MIRT810545	hsa-miR-1253	CLIP-seq
MIRT810546	hsa-miR-1255a	CLIP-seq
MIRT810547	hsa-miR-1255b	CLIP-seq
MIRT810548	hsa-miR-1283	CLIP-seq
MIRT810549	hsa-miR-1284	CLIP-seq
MIRT810550	hsa-miR-1302	CLIP-seq
MIRT810551	hsa-miR-1303	CLIP-seq
MIRT810552	hsa-miR-139-5p	CLIP-seq
MIRT810553	hsa-miR-144	CLIP-seq
MIRT810554	hsa-miR-199a-3p	CLIP-seq
MIRT810555	hsa-miR-199b-3p	CLIP-seq
MIRT810556	hsa-miR-2054	CLIP-seq
MIRT810557	hsa-miR-2276	CLIP-seq
MIRT810558	hsa-miR-2278	CLIP-seq
MIRT810559	hsa-miR-23a	CLIP-seq
MIRT810560	hsa-miR-23b	CLIP-seq
MIRT810561	hsa-miR-23c	CLIP-seq
MIRT810562	hsa-miR-25	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT810564	hsa-miR-3129-5p	CLIP-seq
MIRT810565	hsa-miR-3163	CLIP-seq
MIRT810566	hsa-miR-3185	CLIP-seq
MIRT810567	hsa-miR-32	CLIP-seq
MIRT810568	hsa-miR-323-3p	CLIP-seq
MIRT810569	hsa-miR-325	CLIP-seq
MIRT810570	hsa-miR-338-5p	CLIP-seq
MIRT810571	hsa-miR-363	CLIP-seq
MIRT810572	hsa-miR-3653	CLIP-seq
MIRT810573	hsa-miR-3658	CLIP-seq
MIRT810574	hsa-miR-3662	CLIP-seq
MIRT810575	hsa-miR-367	CLIP-seq
MIRT810576	hsa-miR-3673	CLIP-seq
MIRT810577	hsa-miR-374c	CLIP-seq
MIRT810578	hsa-miR-380	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT810580	hsa-miR-3913-3p	CLIP-seq
MIRT810581	hsa-miR-3936	CLIP-seq
MIRT810582	hsa-miR-4282	CLIP-seq
MIRT810583	hsa-miR-4298	CLIP-seq
MIRT810584	hsa-miR-4423-5p	CLIP-seq
MIRT810585	hsa-miR-4475	CLIP-seq
MIRT810586	hsa-miR-4491	CLIP-seq
MIRT810587	hsa-miR-4657	CLIP-seq
MIRT810588	hsa-miR-4662a-3p	CLIP-seq
MIRT810589	hsa-miR-4666-3p	CLIP-seq
MIRT810590	hsa-miR-4696	CLIP-seq
MIRT810591	hsa-miR-4698	CLIP-seq
MIRT810592	hsa-miR-4747-5p	CLIP-seq
MIRT810593	hsa-miR-4774-3p	CLIP-seq
MIRT810594	hsa-miR-4778-5p	CLIP-seq
MIRT810595	hsa-miR-489	CLIP-seq
MIRT810596	hsa-miR-494	CLIP-seq
MIRT810597	hsa-miR-5096	CLIP-seq
MIRT810598	hsa-miR-515-5p	CLIP-seq
MIRT810599	hsa-miR-520d-5p	CLIP-seq
MIRT810600	hsa-miR-524-5p	CLIP-seq
MIRT810601	hsa-miR-548a-3p	CLIP-seq
MIRT810602	hsa-miR-548an	CLIP-seq
MIRT810603	hsa-miR-548e	CLIP-seq
MIRT810604	hsa-miR-548f	CLIP-seq
MIRT810605	hsa-miR-548p	CLIP-seq
MIRT810606	hsa-miR-592	CLIP-seq
MIRT810607	hsa-miR-597	CLIP-seq
MIRT810608	hsa-miR-628-3p	CLIP-seq
MIRT810609	hsa-miR-655	CLIP-seq
MIRT810610	hsa-miR-888	CLIP-seq
MIRT810611	hsa-miR-891b	CLIP-seq
MIRT810612	hsa-miR-92a	CLIP-seq
MIRT810613	hsa-miR-92b	CLIP-seq
MIRT810614	hsa-miR-142-5p	CLIP-seq
MIRT810615	hsa-miR-4299	CLIP-seq
MIRT810616	hsa-miR-4456	CLIP-seq
MIRT810617	hsa-miR-548a-5p	CLIP-seq
MIRT810618	hsa-miR-548ab	CLIP-seq
MIRT810619	hsa-miR-548ak	CLIP-seq
MIRT810620	hsa-miR-548b-5p	CLIP-seq
MIRT810621	hsa-miR-548c-5p	CLIP-seq
MIRT810622	hsa-miR-548d-5p	CLIP-seq
MIRT810623	hsa-miR-548h	CLIP-seq
MIRT810624	hsa-miR-548i	CLIP-seq
MIRT810625	hsa-miR-548j	CLIP-seq
MIRT810626	hsa-miR-548k	CLIP-seq
MIRT810627	hsa-miR-548l	CLIP-seq
MIRT810628	hsa-miR-548q	CLIP-seq
MIRT810629	hsa-miR-548w	CLIP-seq
MIRT810630	hsa-miR-548y	CLIP-seq
MIRT810631	hsa-miR-559	CLIP-seq
MIRT810632	hsa-miR-627	CLIP-seq
MIRT810633	hsa-miR-924	CLIP-seq
MIRT1939578	hsa-miR-1264	CLIP-seq
MIRT810548	hsa-miR-1283	CLIP-seq
MIRT810549	hsa-miR-1284	CLIP-seq
MIRT810550	hsa-miR-1302	CLIP-seq
MIRT1939579	hsa-miR-1305	CLIP-seq
MIRT1939580	hsa-miR-1323	CLIP-seq
MIRT810553	hsa-miR-144	CLIP-seq
MIRT1939581	hsa-miR-214	CLIP-seq
MIRT1939582	hsa-miR-224	CLIP-seq
MIRT1939583	hsa-miR-27a	CLIP-seq
MIRT1939584	hsa-miR-27b	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT1939585	hsa-miR-3125	CLIP-seq
MIRT1939586	hsa-miR-3168	CLIP-seq
MIRT1939587	hsa-miR-320a	CLIP-seq
MIRT1939588	hsa-miR-320b	CLIP-seq
MIRT1939589	hsa-miR-320c	CLIP-seq
MIRT1939590	hsa-miR-320d	CLIP-seq
MIRT1939591	hsa-miR-330-3p	CLIP-seq
MIRT1939592	hsa-miR-3619-5p	CLIP-seq
MIRT810572	hsa-miR-3653	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT810580	hsa-miR-3913-3p	CLIP-seq
MIRT1939593	hsa-miR-3916	CLIP-seq
MIRT1939594	hsa-miR-409-3p	CLIP-seq
MIRT1939595	hsa-miR-412	CLIP-seq
MIRT1939596	hsa-miR-4291	CLIP-seq
MIRT810583	hsa-miR-4298	CLIP-seq
MIRT1939597	hsa-miR-4328	CLIP-seq
MIRT1939598	hsa-miR-4429	CLIP-seq
MIRT810585	hsa-miR-4475	CLIP-seq
MIRT1939599	hsa-miR-4653-3p	CLIP-seq
MIRT810589	hsa-miR-4666-3p	CLIP-seq
MIRT1939600	hsa-miR-4704-3p	CLIP-seq
MIRT810592	hsa-miR-4747-5p	CLIP-seq
MIRT1939601	hsa-miR-4790-3p	CLIP-seq
MIRT810595	hsa-miR-489	CLIP-seq
MIRT810596	hsa-miR-494	CLIP-seq
MIRT1939602	hsa-miR-511	CLIP-seq
MIRT1939603	hsa-miR-513a-5p	CLIP-seq
MIRT810599	hsa-miR-520d-5p	CLIP-seq
MIRT810600	hsa-miR-524-5p	CLIP-seq
MIRT810601	hsa-miR-548a-3p	CLIP-seq
MIRT810603	hsa-miR-548e	CLIP-seq
MIRT810604	hsa-miR-548f	CLIP-seq
MIRT1939604	hsa-miR-548o	CLIP-seq
MIRT1939605	hsa-miR-606	CLIP-seq
MIRT1939606	hsa-miR-616	CLIP-seq
MIRT1939607	hsa-miR-761	CLIP-seq
MIRT810610	hsa-miR-888	CLIP-seq
MIRT1939608	hsa-miR-922	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT810545	hsa-miR-1253	CLIP-seq
MIRT1939578	hsa-miR-1264	CLIP-seq
MIRT810549	hsa-miR-1284	CLIP-seq
MIRT810550	hsa-miR-1302	CLIP-seq
MIRT810551	hsa-miR-1303	CLIP-seq
MIRT810553	hsa-miR-144	CLIP-seq
MIRT810554	hsa-miR-199a-3p	CLIP-seq
MIRT810555	hsa-miR-199b-3p	CLIP-seq
MIRT810558	hsa-miR-2278	CLIP-seq
MIRT810562	hsa-miR-25	CLIP-seq
MIRT1939583	hsa-miR-27a	CLIP-seq
MIRT1939584	hsa-miR-27b	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT810564	hsa-miR-3129-5p	CLIP-seq
MIRT2178822	hsa-miR-3133	CLIP-seq
MIRT2178823	hsa-miR-3153	CLIP-seq
MIRT810567	hsa-miR-32	CLIP-seq
MIRT810568	hsa-miR-323-3p	CLIP-seq
MIRT810570	hsa-miR-338-5p	CLIP-seq
MIRT2178824	hsa-miR-3613-3p	CLIP-seq
MIRT810571	hsa-miR-363	CLIP-seq
MIRT810572	hsa-miR-3653	CLIP-seq
MIRT810573	hsa-miR-3658	CLIP-seq
MIRT810574	hsa-miR-3662	CLIP-seq
MIRT810575	hsa-miR-367	CLIP-seq
MIRT2178825	hsa-miR-371-5p	CLIP-seq
MIRT2178826	hsa-miR-371b-5p	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT2178827	hsa-miR-3942-3p	CLIP-seq
MIRT1939595	hsa-miR-412	CLIP-seq
MIRT810583	hsa-miR-4298	CLIP-seq
MIRT1939597	hsa-miR-4328	CLIP-seq
MIRT2178828	hsa-miR-4422	CLIP-seq
MIRT2178829	hsa-miR-4494	CLIP-seq
MIRT2178830	hsa-miR-4659a-5p	CLIP-seq
MIRT2178831	hsa-miR-4659b-5p	CLIP-seq
MIRT810589	hsa-miR-4666-3p	CLIP-seq
MIRT2178832	hsa-miR-4668-5p	CLIP-seq
MIRT1939600	hsa-miR-4704-3p	CLIP-seq
MIRT2178833	hsa-miR-4716-5p	CLIP-seq
MIRT2178834	hsa-miR-4722-5p	CLIP-seq
MIRT2178835	hsa-miR-4727-5p	CLIP-seq
MIRT2178836	hsa-miR-4769-3p	CLIP-seq
MIRT1939601	hsa-miR-4790-3p	CLIP-seq
MIRT2178837	hsa-miR-4796-3p	CLIP-seq
MIRT810596	hsa-miR-494	CLIP-seq
MIRT2178838	hsa-miR-499a-5p	CLIP-seq
MIRT810597	hsa-miR-5096	CLIP-seq
MIRT1939603	hsa-miR-513a-5p	CLIP-seq
MIRT2178839	hsa-miR-522	CLIP-seq
MIRT810602	hsa-miR-548an	CLIP-seq
MIRT810627	hsa-miR-548l	CLIP-seq
MIRT2178840	hsa-miR-548n	CLIP-seq
MIRT2178841	hsa-miR-570	CLIP-seq
MIRT2178842	hsa-miR-590-3p	CLIP-seq
MIRT810612	hsa-miR-92a	CLIP-seq
MIRT810613	hsa-miR-92b	CLIP-seq
MIRT1939587	hsa-miR-320a	CLIP-seq
MIRT1939588	hsa-miR-320b	CLIP-seq
MIRT1939589	hsa-miR-320c	CLIP-seq
MIRT1939590	hsa-miR-320d	CLIP-seq
MIRT1939598	hsa-miR-4429	CLIP-seq
MIRT810576	hsa-miR-3673	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT2178839	hsa-miR-522	CLIP-seq
MIRT2441979	hsa-miR-873	CLIP-seq
MIRT2482327	hsa-miR-1243	CLIP-seq
MIRT1939578	hsa-miR-1264	CLIP-seq
MIRT2482328	hsa-miR-1272	CLIP-seq
MIRT2482329	hsa-miR-1278	CLIP-seq
MIRT810549	hsa-miR-1284	CLIP-seq
MIRT2482330	hsa-miR-1297	CLIP-seq
MIRT810550	hsa-miR-1302	CLIP-seq
MIRT1939580	hsa-miR-1323	CLIP-seq
MIRT2482331	hsa-miR-147	CLIP-seq
MIRT2482332	hsa-miR-181a	CLIP-seq
MIRT2482333	hsa-miR-181b	CLIP-seq
MIRT2482334	hsa-miR-181c	CLIP-seq
MIRT2482335	hsa-miR-181d	CLIP-seq
MIRT2482336	hsa-miR-185	CLIP-seq
MIRT2482337	hsa-miR-2053	CLIP-seq
MIRT1939581	hsa-miR-214	CLIP-seq
MIRT2482338	hsa-miR-218	CLIP-seq
MIRT2482339	hsa-miR-219-2-3p	CLIP-seq
MIRT2482340	hsa-miR-26a	CLIP-seq
MIRT2482341	hsa-miR-26b	CLIP-seq
MIRT1939583	hsa-miR-27a	CLIP-seq
MIRT1939584	hsa-miR-27b	CLIP-seq
MIRT2482342	hsa-miR-298	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT2482343	hsa-miR-3065-3p	CLIP-seq
MIRT2482344	hsa-miR-3129-3p	CLIP-seq
MIRT2178822	hsa-miR-3133	CLIP-seq
MIRT2482345	hsa-miR-3157-3p	CLIP-seq
MIRT810565	hsa-miR-3163	CLIP-seq
MIRT2482346	hsa-miR-3190	CLIP-seq
MIRT1939587	hsa-miR-320a	CLIP-seq
MIRT1939588	hsa-miR-320b	CLIP-seq
MIRT1939589	hsa-miR-320c	CLIP-seq
MIRT1939590	hsa-miR-320d	CLIP-seq
MIRT810568	hsa-miR-323-3p	CLIP-seq
MIRT810570	hsa-miR-338-5p	CLIP-seq
MIRT2482347	hsa-miR-340	CLIP-seq
MIRT2482348	hsa-miR-3607-5p	CLIP-seq
MIRT2178824	hsa-miR-3613-3p	CLIP-seq
MIRT1939592	hsa-miR-3619-5p	CLIP-seq
MIRT2482349	hsa-miR-3647-3p	CLIP-seq
MIRT810572	hsa-miR-3653	CLIP-seq
MIRT810573	hsa-miR-3658	CLIP-seq
MIRT810574	hsa-miR-3662	CLIP-seq
MIRT2482350	hsa-miR-3678-3p	CLIP-seq
MIRT2482351	hsa-miR-3682-3p	CLIP-seq
MIRT2482352	hsa-miR-3688-3p	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT2482353	hsa-miR-3908	CLIP-seq
MIRT2482354	hsa-miR-3911	CLIP-seq
MIRT2482355	hsa-miR-410	CLIP-seq
MIRT1939595	hsa-miR-412	CLIP-seq
MIRT2482356	hsa-miR-4262	CLIP-seq
MIRT2482357	hsa-miR-4276	CLIP-seq
MIRT1939596	hsa-miR-4291	CLIP-seq
MIRT810583	hsa-miR-4298	CLIP-seq
MIRT2482358	hsa-miR-4302	CLIP-seq
MIRT2482359	hsa-miR-4306	CLIP-seq
MIRT2482360	hsa-miR-4307	CLIP-seq
MIRT1939598	hsa-miR-4429	CLIP-seq
MIRT2482361	hsa-miR-4434	CLIP-seq
MIRT2482362	hsa-miR-4455	CLIP-seq
MIRT2482363	hsa-miR-4465	CLIP-seq
MIRT810586	hsa-miR-4491	CLIP-seq
MIRT2482364	hsa-miR-4496	CLIP-seq
MIRT2482365	hsa-miR-450b-5p	CLIP-seq
MIRT2482366	hsa-miR-4516	CLIP-seq
MIRT2482367	hsa-miR-4517	CLIP-seq
MIRT2482368	hsa-miR-4524	CLIP-seq
MIRT2482369	hsa-miR-4531	CLIP-seq
MIRT2482370	hsa-miR-4644	CLIP-seq
MIRT2482371	hsa-miR-4646-5p	CLIP-seq
MIRT810587	hsa-miR-4657	CLIP-seq
MIRT810589	hsa-miR-4666-3p	CLIP-seq
MIRT2482372	hsa-miR-4690-5p	CLIP-seq
MIRT810591	hsa-miR-4698	CLIP-seq
MIRT2482373	hsa-miR-4712-3p	CLIP-seq
MIRT2178835	hsa-miR-4727-5p	CLIP-seq
MIRT2482374	hsa-miR-4738-3p	CLIP-seq
MIRT2482375	hsa-miR-4742-3p	CLIP-seq
MIRT2482376	hsa-miR-4742-5p	CLIP-seq
MIRT2482377	hsa-miR-4755-3p	CLIP-seq
MIRT2482378	hsa-miR-4760-3p	CLIP-seq
MIRT2482379	hsa-miR-4768-3p	CLIP-seq
MIRT2178836	hsa-miR-4769-3p	CLIP-seq
MIRT810596	hsa-miR-494	CLIP-seq
MIRT2482380	hsa-miR-507	CLIP-seq
MIRT1939602	hsa-miR-511	CLIP-seq
MIRT2482381	hsa-miR-513a-3p	CLIP-seq
MIRT1939603	hsa-miR-513a-5p	CLIP-seq
MIRT2482382	hsa-miR-517a	CLIP-seq
MIRT2482383	hsa-miR-517c	CLIP-seq
MIRT810599	hsa-miR-520d-5p	CLIP-seq
MIRT2178839	hsa-miR-522	CLIP-seq
MIRT810600	hsa-miR-524-5p	CLIP-seq
MIRT2482384	hsa-miR-545	CLIP-seq
MIRT810601	hsa-miR-548a-3p	CLIP-seq
MIRT810617	hsa-miR-548a-5p	CLIP-seq
MIRT810618	hsa-miR-548ab	CLIP-seq
MIRT810619	hsa-miR-548ak	CLIP-seq
MIRT810602	hsa-miR-548an	CLIP-seq
MIRT810620	hsa-miR-548b-5p	CLIP-seq
MIRT810621	hsa-miR-548c-5p	CLIP-seq
MIRT810622	hsa-miR-548d-5p	CLIP-seq
MIRT810603	hsa-miR-548e	CLIP-seq
MIRT810604	hsa-miR-548f	CLIP-seq
MIRT2482385	hsa-miR-548g	CLIP-seq
MIRT810623	hsa-miR-548h	CLIP-seq
MIRT810624	hsa-miR-548i	CLIP-seq
MIRT810625	hsa-miR-548j	CLIP-seq
MIRT810626	hsa-miR-548k	CLIP-seq
MIRT2178840	hsa-miR-548n	CLIP-seq
MIRT1939604	hsa-miR-548o	CLIP-seq
MIRT810605	hsa-miR-548p	CLIP-seq
MIRT2482386	hsa-miR-548t	CLIP-seq
MIRT810629	hsa-miR-548w	CLIP-seq
MIRT810630	hsa-miR-548y	CLIP-seq
MIRT2482387	hsa-miR-557	CLIP-seq
MIRT810631	hsa-miR-559	CLIP-seq
MIRT2482388	hsa-miR-576-3p	CLIP-seq
MIRT2178842	hsa-miR-590-3p	CLIP-seq
MIRT2482389	hsa-miR-636	CLIP-seq
MIRT2482390	hsa-miR-644	CLIP-seq
MIRT2482391	hsa-miR-665	CLIP-seq
MIRT2482392	hsa-miR-7	CLIP-seq
MIRT1939607	hsa-miR-761	CLIP-seq
MIRT2482393	hsa-miR-767-5p	CLIP-seq
MIRT2441979	hsa-miR-873	CLIP-seq
MIRT1939608	hsa-miR-922	CLIP-seq
MIRT2482394	hsa-miR-944	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT1939587	hsa-miR-320a	CLIP-seq
MIRT1939588	hsa-miR-320b	CLIP-seq
MIRT1939589	hsa-miR-320c	CLIP-seq
MIRT1939590	hsa-miR-320d	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT1939596	hsa-miR-4291	CLIP-seq
MIRT1939598	hsa-miR-4429	CLIP-seq
MIRT810589	hsa-miR-4666-3p	CLIP-seq
MIRT810596	hsa-miR-494	CLIP-seq
MIRT810599	hsa-miR-520d-5p	CLIP-seq
MIRT810600	hsa-miR-524-5p	CLIP-seq
MIRT810601	hsa-miR-548a-3p	CLIP-seq
MIRT810603	hsa-miR-548e	CLIP-seq
MIRT810604	hsa-miR-548f	CLIP-seq
MIRT2675764	hsa-miR-1236	CLIP-seq
MIRT1939578	hsa-miR-1264	CLIP-seq
MIRT2482328	hsa-miR-1272	CLIP-seq
MIRT2482329	hsa-miR-1278	CLIP-seq
MIRT810549	hsa-miR-1284	CLIP-seq
MIRT2482330	hsa-miR-1297	CLIP-seq
MIRT810550	hsa-miR-1302	CLIP-seq
MIRT2482331	hsa-miR-147	CLIP-seq
MIRT2482332	hsa-miR-181a	CLIP-seq
MIRT2482333	hsa-miR-181b	CLIP-seq
MIRT2482334	hsa-miR-181c	CLIP-seq
MIRT2482335	hsa-miR-181d	CLIP-seq
MIRT2482336	hsa-miR-185	CLIP-seq
MIRT2675765	hsa-miR-186	CLIP-seq
MIRT2482337	hsa-miR-2053	CLIP-seq
MIRT1939581	hsa-miR-214	CLIP-seq
MIRT2482338	hsa-miR-218	CLIP-seq
MIRT2482339	hsa-miR-219-2-3p	CLIP-seq
MIRT2482340	hsa-miR-26a	CLIP-seq
MIRT2482341	hsa-miR-26b	CLIP-seq
MIRT1939583	hsa-miR-27a	CLIP-seq
MIRT1939584	hsa-miR-27b	CLIP-seq
MIRT2482342	hsa-miR-298	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT2482343	hsa-miR-3065-3p	CLIP-seq
MIRT1939585	hsa-miR-3125	CLIP-seq
MIRT2178822	hsa-miR-3133	CLIP-seq
MIRT2482345	hsa-miR-3157-3p	CLIP-seq
MIRT810565	hsa-miR-3163	CLIP-seq
MIRT2482346	hsa-miR-3190	CLIP-seq
MIRT1939587	hsa-miR-320a	CLIP-seq
MIRT1939588	hsa-miR-320b	CLIP-seq
MIRT1939589	hsa-miR-320c	CLIP-seq
MIRT1939590	hsa-miR-320d	CLIP-seq
MIRT810568	hsa-miR-323-3p	CLIP-seq
MIRT810570	hsa-miR-338-5p	CLIP-seq
MIRT2482347	hsa-miR-340	CLIP-seq
MIRT2482348	hsa-miR-3607-5p	CLIP-seq
MIRT2178824	hsa-miR-3613-3p	CLIP-seq
MIRT1939592	hsa-miR-3619-5p	CLIP-seq
MIRT2482349	hsa-miR-3647-3p	CLIP-seq
MIRT2482350	hsa-miR-3678-3p	CLIP-seq
MIRT2482351	hsa-miR-3682-3p	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT2482353	hsa-miR-3908	CLIP-seq
MIRT2482354	hsa-miR-3911	CLIP-seq
MIRT1939593	hsa-miR-3916	CLIP-seq
MIRT2178827	hsa-miR-3942-3p	CLIP-seq
MIRT1939595	hsa-miR-412	CLIP-seq
MIRT2675766	hsa-miR-4257	CLIP-seq
MIRT2482356	hsa-miR-4262	CLIP-seq
MIRT1939596	hsa-miR-4291	CLIP-seq
MIRT810583	hsa-miR-4298	CLIP-seq
MIRT2482359	hsa-miR-4306	CLIP-seq
MIRT2482360	hsa-miR-4307	CLIP-seq
MIRT1939598	hsa-miR-4429	CLIP-seq
MIRT2482361	hsa-miR-4434	CLIP-seq
MIRT2482362	hsa-miR-4455	CLIP-seq
MIRT2482363	hsa-miR-4465	CLIP-seq
MIRT810586	hsa-miR-4491	CLIP-seq
MIRT2482364	hsa-miR-4496	CLIP-seq
MIRT2482365	hsa-miR-450b-5p	CLIP-seq
MIRT2482366	hsa-miR-4516	CLIP-seq
MIRT2482368	hsa-miR-4524	CLIP-seq
MIRT2482369	hsa-miR-4531	CLIP-seq
MIRT2482370	hsa-miR-4644	CLIP-seq
MIRT2482371	hsa-miR-4646-5p	CLIP-seq
MIRT810587	hsa-miR-4657	CLIP-seq
MIRT810589	hsa-miR-4666-3p	CLIP-seq
MIRT2675767	hsa-miR-4676-5p	CLIP-seq
MIRT2675768	hsa-miR-4687-3p	CLIP-seq
MIRT2482372	hsa-miR-4690-5p	CLIP-seq
MIRT810591	hsa-miR-4698	CLIP-seq
MIRT2482373	hsa-miR-4712-3p	CLIP-seq
MIRT2178835	hsa-miR-4727-5p	CLIP-seq
MIRT2482374	hsa-miR-4738-3p	CLIP-seq
MIRT2482376	hsa-miR-4742-5p	CLIP-seq
MIRT2675769	hsa-miR-4744	CLIP-seq
MIRT2675770	hsa-miR-4753-3p	CLIP-seq
MIRT2482377	hsa-miR-4755-3p	CLIP-seq
MIRT2675771	hsa-miR-4759	CLIP-seq
MIRT2482378	hsa-miR-4760-3p	CLIP-seq
MIRT2482379	hsa-miR-4768-3p	CLIP-seq
MIRT2178836	hsa-miR-4769-3p	CLIP-seq
MIRT2675772	hsa-miR-4778-3p	CLIP-seq
MIRT2675773	hsa-miR-4786-3p	CLIP-seq
MIRT2675774	hsa-miR-4789-5p	CLIP-seq
MIRT810596	hsa-miR-494	CLIP-seq
MIRT2482380	hsa-miR-507	CLIP-seq
MIRT2482381	hsa-miR-513a-3p	CLIP-seq
MIRT1939603	hsa-miR-513a-5p	CLIP-seq
MIRT2482382	hsa-miR-517a	CLIP-seq
MIRT2482383	hsa-miR-517c	CLIP-seq
MIRT810599	hsa-miR-520d-5p	CLIP-seq
MIRT2178839	hsa-miR-522	CLIP-seq
MIRT810600	hsa-miR-524-5p	CLIP-seq
MIRT2482384	hsa-miR-545	CLIP-seq
MIRT810602	hsa-miR-548an	CLIP-seq
MIRT810626	hsa-miR-548k	CLIP-seq
MIRT2178840	hsa-miR-548n	CLIP-seq
MIRT810605	hsa-miR-548p	CLIP-seq
MIRT2482386	hsa-miR-548t	CLIP-seq
MIRT2482387	hsa-miR-557	CLIP-seq
MIRT2675775	hsa-miR-575	CLIP-seq
MIRT2482388	hsa-miR-576-3p	CLIP-seq
MIRT2178842	hsa-miR-590-3p	CLIP-seq
MIRT2482389	hsa-miR-636	CLIP-seq
MIRT2482390	hsa-miR-644	CLIP-seq
MIRT2482391	hsa-miR-665	CLIP-seq
MIRT2482392	hsa-miR-7	CLIP-seq
MIRT1939607	hsa-miR-761	CLIP-seq
MIRT2482393	hsa-miR-767-5p	CLIP-seq
MIRT2441979	hsa-miR-873	CLIP-seq
MIRT1939608	hsa-miR-922	CLIP-seq
MIRT2482394	hsa-miR-944	CLIP-seq

Show/Hide all (79)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000212	Process	Meiotic spindle organization	IEA
GO:0000228	Component	Nuclear chromosome	IEA
GO:0000779	Component	Condensed chromosome, centromeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0000792	Component	Heterochromatin	IEA
GO:0000792	Component	Heterochromatin	TAS	10570185
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	27029610
GO:0003682	Function	Chromatin binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	10699177, 12953102, 17296936, 22102817, 22391447, 24651726, 24981860, 25417162, 26373281, 26496610, 27029610, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7874112
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005721	Component	Pericentric heterochromatin	IBA
GO:0005721	Component	Pericentric heterochromatin	IEA
GO:0005721	Component	Pericentric heterochromatin	ISS
GO:0006281	Process	DNA repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	IMP	22391447
GO:0006334	Process	Nucleosome assembly	IDA	20651253
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IDA	20651253
GO:0006338	Process	Chromatin remodeling	IMP	10742099, 27029610
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	7697714
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010564	Process	Regulation of cell cycle process	IEA
GO:0010571	Process	Positive regulation of nuclear cell cycle DNA replication	IEA
GO:0010571	Process	Positive regulation of nuclear cell cycle DNA replication	ISS
GO:0015616	Function	DNA translocase activity	IDA	12953102
GO:0016604	Component	Nuclear body	IDA
GO:0016604	Component	Nuclear body	IEA
GO:0016605	Component	PML body	IEA
GO:0016605	Component	PML body	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	ISS
GO:0030900	Process	Forebrain development	IEA
GO:0031297	Process	Replication fork processing	IBA
GO:0031297	Process	Replication fork processing	IEA
GO:0031297	Process	Replication fork processing	ISS
GO:0031490	Function	Chromatin DNA binding	IBA
GO:0031509	Process	Subtelomeric heterochromatin formation	IEA
GO:0031509	Process	Subtelomeric heterochromatin formation	IMP	26055325
GO:0031509	Process	Subtelomeric heterochromatin formation	ISS
GO:0032206	Process	Positive regulation of telomere maintenance	IEA
GO:0032206	Process	Positive regulation of telomere maintenance	ISS
GO:0033044	Process	Regulation of chromosome organization	IEA
GO:0035128	Process	Post-embryonic forelimb morphogenesis	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042393	Function	Histone binding	IDA	20211137, 22391447
GO:0042393	Function	Histone binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	22391447
GO:0046872	Function	Metal ion binding	IEA
GO:0060009	Process	Sertoli cell development	IEA
GO:0062072	Function	Histone H3K9me2/3 reader activity	IDA	21421568
GO:0070087	Function	Chromo shadow domain binding	IPI	15882967
GO:0070192	Process	Chromosome organization involved in meiotic cell cycle	IEA
GO:0070198	Process	Protein localization to chromosome, telomeric region	IEA
GO:0070198	Process	Protein localization to chromosome, telomeric region	ISS
GO:0072520	Process	Seminiferous tubule development	IEA
GO:0072711	Process	Cellular response to hydroxyurea	IEA
GO:0072711	Process	Cellular response to hydroxyurea	ISS
GO:0099115	Component	Chromosome, subtelomeric region	IDA	26055325
GO:1904908	Process	Negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric	IMP	26373281

MIM	HGNC	e!Ensembl
300032	886	ENSG00000085224

P46100

Protein name

Transcriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX)

Protein function

Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both te

PDB

2JM1 , 2LBM , 2LD1 , 3QL9 , 3QLA , 3QLC , 3QLN , 4W5A , 5GRQ , 5Y18 , 5Y6O , 6G0O

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17981	ADD_ATRX	158 → 213	Cysteine Rich ADD domain	Domain
PF00176	SNF2_N	1536 → 1889	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	2018 → 2155	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENS
KEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQS
LPKGTVIVQPEPVLNEDKDDFKGPEFRSRSKMKTENLKKRGEDGLHGIVSCTACGQQVNH
FQKDSIYRHPSLQVLICKNCFKYYMSDDISRDSDGMDEQCRWCAEGGNLICCDFCHNAFC
KKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTACNSVFENLEQLLQQNKKKIKV
DSEKSNKVYEHTSRFSPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPKEMIKKAKKLI
ETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAM
DAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPT
EEQRTNKSTGGEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVPEDIFENLETAMEVQS
SVDHQGDGSSGTEQEVESSSVKLNISSKDNRGGIKSKTTAKVTKELYVKLTPVSLSNSPI
KGADCQEVPQDKDGYKSCGLNPKLEKCGLGQENSDNEHLVENEVSLLLEESDLRRSPRVK
TTPLRRPTETNPVTSNSDEECNETVKEKQKLSVPVRKKDKRNSSDSAIDNPKPNKLPKSK
QSETVDQNSDSDEMLAILKEVSRMSHSSSSDTDINEIHTNHKTLYDLKTQAGKDDKGKRK
RKSSTSGSDFDTKKGKSAKSSIISKKKRQTQSESSNYDSELEKEIKSMSKIGAARTTKKR
IPNTKDFDSSEDEKHSKKGMDNQGHKNLKTSQEGSSDDAERKQERETFSSAEGTVDKDTT
IMELRDRLPKKQQASASTDGVDKLSGKEQSFTSLEVRKVAETKEKSKHLKTKTCKKVQDG
LSDIAEKFLKKDQSDETSEDDKKQSKKGTEEKKKPSDFKKKVIKMEQQYESSSDGTEKLP
EREEICHFPKGIKQIKNGTTDGEKKSKKIRDKTSKKKDELSDYAEKSTGKGDSCDSSEDK
KSKNGAYGREKKRCKLLGKSSRKRQDCSSSDTEKYSMKEDGCNSSDKRLKRIELRERRNL
SSKRNTKEIQSGSSSSDAEESSEDNKKKKQRTSSKKKAVIVKEKKRNSLRTSTKRKQADI
TSSSSSDIEDDDQNSIGEGSSDEQKIKPVTENLVLSSHTGFCQSSGDEALSKSVPVTVDD
DDDDNDPENRIAKKMLLEEIKANLSSDEDGSSDDEPEEGKKRTGKQNEENPGDEEAKNQV
NSESDSDSEESKKPRYRHRLLRHKLTVSDGESGEEKKTKPKEHKEVKGRNRRKVSSEDSE
DSDFQESGVSEEVSESEDEQRPRTRSAKKAELEENQRSYKQKKKRRRIKVQEDSSSENKS
NSEEEEEEKEEEEEEEEEEEEEEEDENDDSKSPGKGRKKIRKILKDDKLRTETQNALKEE
EERRKRIAEREREREKLREVIEIEDASPTKCPITTKLVLDEDEETKEPLVQVHRNMVIKL
KPHQVDGVQFMWDCCCESVKKTKKSPGSGCILAHCMGLGKTLQVVSFLHTVLLCDKLDFS
TALVVCPLNTALNWMNEFEKWQEGLKDDEKLEVSELATVKRPQERSYMLQRWQEDGGVMI
IGYEMYRNLAQGRNVKSRKLKEIFNKALVDPGPDFVVCDEGHILKNEASAVSKAMNSIRS
RRRIILTGTPLQNNLIEYHCMVNFIKENLLGSIKEFRNRFINPIQNGQCADSTMVDVRVM
KKRAHILYEMLAGCVQRKDYTALTKFLPPKHEYVLAVRMTSIQCKLYQYYLDHLTGVGNN
SEGGRGKAGAKLFQDFQMLSRIWTHPWCLQLDYISKENKGYFDEDSMDEFIASDSDETSM
SLSSDDYTKKKKKGKKGKKDSSSSGSGSDNDVEVIKVWNSRSRGGGEGNVDETGNNPSVS
LKLEESKATSSSNPSSPAPDWYKDFVTDADAEVLEHSGKMVLLFEILRMAEEIGDKVLVF
SQSLISLDLIEDFLELASREKTEDKDKPLIYKGEGKWLRNIDYYRLDGSTTAQSRKKWAE
EFNDETNVRGRLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRVYRFGQTKPV
YVYRFLAQGTMEDKIYDRQVTKQSLSFRVVDQQQVERHFTMNELTELYTFEPDLLDDPNS
EKKKKRDTPMLPKDTILAELLQIHKEHIVGYHEHDSLLDHKEEEELTEEERKAAWAEYEA
EKKGLTMRFNIPTGTNLPPVSFNSQTPYIPFNLGALSAMSNQQLEDLINQGREKVVEATN
SVTAVRIQPLEDIISAVWKENMNLSEAQVQALALSRQASQELDVKRREAIYNDVLTKQQM
LISCVQRILMNRRLQQQYNQQQQQQMTYQQATLGHLMMPKPPNLIMNPSNYQQIDMRGMY
QPVAGGMQPPPLQRAPPPMRSKNPGPSQGKSM

Sequence length

2492

Interactions

View interactions

	KEGG
	Cell cycle

2324

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs2148019913	RCV001814494
Acquired hemoglobin H disease	Likely pathogenic; Pathogenic	rs1057521987, rs122445105, rs587776756, rs122445107, rs122445108	RCV005040305 RCV000763634 RCV000012506 RCV000012507 RCV004795394
Adrenal cortex carcinoma	Pathogenic	rs2148020083	RCV004813190
Alpha thalassemia-X-linked intellectual disability syndrome	Likely pathogenic; Pathogenic	rs2067371776, rs2148657465, rs1557140492, rs2148685852, rs1057521987, rs2148019913, rs2148020083, rs2148260943, rs2148591494, rs2147761759, rs2148656473, rs891068548, rs2148259374, rs2520173058, rs2148623651 View all (48 more)	RCV001598686 RCV001379146 RCV001387072 RCV001384857 RCV001882566 RCV001824991 RCV003624466 RCV005412283 RCV001950675 RCV002037060 RCV002226570 RCV002238573 RCV002299866 RCV002863001 RCV003123392 RCV003148562 RCV000012487 RCV000012488 RCV000012489 RCV000012491 RCV000012492 RCV000012493 RCV000012494 RCV000012495 RCV000012496 RCV000199096 RCV000012499 RCV000012500 RCV000012501 RCV000012502 RCV000012505 RCV000148028 RCV001582475 RCV003397224 RCV003444076 RCV003512412 RCV003512393 RCV003513324 RCV003511802 RCV003624849 RCV003625171 RCV003625263 RCV003625625 RCV003988713 RCV003512036 RCV001197192 RCV000415467 RCV000990876 RCV000449558 RCV000659282 RCV000678967 RCV000679879 RCV001253308 RCV000850532 RCV000853395 RCV000856787 RCV000990873 RCV000990874 RCV001050907 RCV001039588 RCV001227108 RCV001235205 RCV001253201 RCV001255468 RCV001262503
Alpha-thalassemia/intellectual disability syndrome	Likely pathogenic; Pathogenic	rs398123420	RCV004798771
ATR-X-related syndrome	Pathogenic	rs1557140492	RCV004789566
ATRX-related disorder	Pathogenic; Likely pathogenic	rs122445099, rs122445101, rs122445106, rs2148260344, rs2148343613	RCV004532323 RCV004528102 RCV004734510 RCV004536734 RCV004528750
Global developmental delay	Likely pathogenic; Pathogenic	rs1060499759, rs1569513017	RCV000454334 RCV000782267
Intellectual disability	Likely pathogenic; Pathogenic	rs122445108	RCV000224314
Intellectual disability-hypotonic facies syndrome, X-linked	Pathogenic; Likely pathogenic	rs122445101, rs122445102, rs1569513021, rs122445108, rs122445109, rs122445111, rs122445112	RCV000012497 RCV000012498 RCV000012503 RCV000012508 RCV000012509 RCV000012511 RCV000012512
Intellectual disability-hypotonic facies syndrome, X-linked, 1	Likely pathogenic; Pathogenic	rs2067371776, rs1057521987, rs2148637532, rs2148260943, rs2519899305, rs2148090735, rs2148638603, rs2520122502, rs122445099, rs122445101, rs122445103, rs122445105, rs122445106, rs122445108, rs2520030124 View all (7 more)	RCV001329934 RCV005040305 RCV001806377 RCV003152772 RCV002465434 RCV002795908 RCV003148563 RCV003459814 RCV002283442 RCV000199096 RCV000197579 RCV000763634 RCV003128081 RCV000680146 RCV003989458 RCV004526292 RCV001775115 RCV002288984 RCV000785929 RCV000850532 RCV001252426 RCV001254172 RCV000850379
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs2519936481	RCV003991639
Microcephaly	Likely pathogenic	rs1060499759	RCV000454334
Neonatal hypotonia	Likely pathogenic	rs1057521987	RCV001526627
Neoplasm	Pathogenic	rs1057523785, rs2071372283	RCV006274430 RCV004671303
Renier-Gabreels-Jasper syndrome	Likely pathogenic; Pathogenic	rs122445105	RCV001249275

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Alpha thalassemia X-linked intellectual disability (ATRX) syndrome	Conflicting classifications of pathogenicity	rs149195735	RCV002466656
Astrocytoma, anaplastic	Benign; Likely benign	rs45439799	RCV000590248
Atypical teratoid rhabdoid tumor	Benign; Likely benign	rs45439799	RCV000588578
Cervical cancer	Benign	rs45608236	RCV005915468
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	rs587778082	RCV005889462
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs376906761, rs200420513	RCV005916211 RCV005889737
Developmental disorder	Uncertain significance; Conflicting classifications of pathogenicity	rs2148670017, rs191563592	RCV001843752 RCV003126788
Familial cancer of breast	Likely benign	rs781981978	RCV005921209
Gastric cancer	Benign; -	rs45608236, rs2148435131, rs193223073	RCV005915470 RCV005920629 RCV005927868
Glioblastoma multiforme, somatic	-	rs1569523183	RCV004813252
Glioma susceptibility 1	-	rs2148349096, rs2148640625, rs2148351116	RCV005922554 RCV005922746 RCV005925732
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	rs122445110, rs1569531574, rs1569528925	RCV000717338 RCV000721036 RCV000720958
IDH-wildtype glioblastoma	Conflicting classifications of pathogenicity	rs782274478	RCV006254113
Malignant tumor of esophagus	Benign	rs45608236	RCV005915467
Melanoma	Conflicting classifications of pathogenicity	rs200420513	RCV005889738
Neurodevelopmental disorder	Uncertain significance	rs2148450330	RCV002277690
Neuroendocrine pancreatic tumor	-	rs1287383551	RCV004813283
Oligodendroglioma	-	rs1569535987	RCV004813304
Sarcoma	Benign; -	rs45608236, rs2148449882	RCV005915469 RCV005922745
Schizophrenia	Uncertain significance	rs2522237943, rs2522672248	RCV002463529 RCV002463561
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs2148752831, rs1438494550, rs2520028466, rs185359850	RCV002252690 RCV002252638 RCV002287795 RCV002251965
Uterine corpus endometrial carcinoma	Benign	rs45608236	RCV005915471

Show/Hide Text Mining Associations (138)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
46 XX Testicular Disorders of Sex Development	Associate	8651295
Abnormal Karyotype	Associate	30598078
ACTH Secreting Pituitary Adenoma	Associate	33106857
Adenocarcinoma	Associate	31374064
Adenocarcinoma Mucinous	Associate	38369337
Adenoma	Associate	30111351
Adenosarcoma	Associate	36138078
Adrenocortical Carcinoma	Associate	33513905
alpha Thalassemia	Associate	14592816, 17609377, 20602808, 22391447, 23104868, 23681356, 26017030, 26918938, 29044913, 29669917, 29706636, 30803555, 8644709
Alpha Thalassemia Myelodysplasia Syndrome	Associate	14576055, 14592816, 23028133
Alternating hemiplegia of childhood	Associate	23104868, 23708666, 23765250, 26055325, 26373281, 27407094, 27578458, 27663587, 28115389, 30226859, 31706351, 33128602, 34690007, 35953846, 36541551, 36689342 View all (1 more)
Alternating hemiplegia of childhood	Inhibit	35227290
Anaplasia	Associate	30192422
Anemia hypochromic microcytic	Associate	30803555
Angiomyolipoma	Associate	36308711
Aphasia	Associate	26997013
Astrocytoma	Associate	22869205, 23765250, 23904111, 24810474, 25257301, 25853694, 25971279, 25991674, 28871469, 29077933, 29564591, 29973652, 30192422, 30536195, 31706351 View all (7 more)
Astrocytoma	Inhibit	28392842, 30504574, 40514723
ATR X syndrome	Associate	10204841, 12953102, 1415255, 14592816, 14990586, 17609377, 21218045, 21252315, 21666679, 23028133, 23485562, 23681356, 26991472, 28027854, 28293299 View all (7 more)
Autism Spectrum Disorder	Associate	30392976
Autistic Disorder	Associate	23681356, 30755392
Autosomal Recessive Primary Microcephaly	Associate	35962714
Bipolar Disorder	Associate	36624117
Body Dysmorphic Disorders	Associate	1415255
Brain Neoplasms	Associate	28371217, 35017538, 36246555
Breast Neoplasms	Associate	38126976
Cakut	Associate	27151922
Calcinosis Cutis	Associate	27407094, 36308711, 37954063, 39351526
Carcinogenesis	Associate	25743702, 29669917, 33513905, 34951647
Carcinoma	Associate	30051528, 30192422, 30281149, 36933012
Carcinoma Merkel Cell	Associate	25531179
Carcinoma Neuroendocrine	Associate	30627226, 39267076
Carcinoma Renal Cell	Associate	29509313, 36367018
Carcinoma Small Cell	Associate	28993028
Carcinoma Squamous Cell	Associate	31374064
Cell Transformation Neoplastic	Associate	29545335, 34951647
Central Nervous System Neoplasms	Associate	21719641, 22829774, 23592488
Chondrosarcoma	Associate	31615936
Chromosomal Instability	Associate	28115389
Chromosome Fragility	Associate	31180492
Coffin Lowry Syndrome	Associate	8644709
Cognition Disorders	Associate	36624117
Colonic Neoplasms	Associate	39333335
Colorectal Neoplasms	Associate	36520636, 36759506, 37394872
Conjunctival Diseases	Associate	37629169
Cytomegalovirus Infections	Associate	23689370
Demyelinating Diseases	Associate	23681356
Depressive Disorder	Associate	38126976
Developmental Disabilities	Associate	29706636, 30755392
Diastrophic dysplasia	Associate	24690944
Diffuse Intrinsic Pontine Glioma	Associate	26517431, 34114629
Disorder of Sex Development 46 XY	Associate	39285472
Disruptive Impulse Control and Conduct Disorders	Associate	36624117
Dystonic Disorders	Associate	37350195
Enchondromatosis	Associate	32643682
Epstein Barr Virus Infections	Associate	33297669
Esophageal Squamous Cell Carcinoma	Associate	26812616
Fabry Disease	Associate	26997013
Facial Dysmorphism with Multiple Malformations	Associate	20602808
Fanconi Anemia	Associate	29973652
Female Urogenital Diseases	Associate	30028779
Fragile Site 16p12	Associate	31180492
Genetic Diseases Inborn	Associate	29574715, 29706636
Glioblastoma	Associate	22829774, 22869205, 23592488, 23689370, 25427834, 26496030, 26817999, 26833422, 27579614, 29802247, 30085274, 30504574, 30635340, 30861589, 32678261 View all (12 more)
Glioblastoma	Inhibit	24810474, 26443480
Glioma	Associate	22869205, 23104868, 23904111, 24559763, 24810474, 25427834, 25971279, 26055325, 26061751, 26175411, 26210286, 26699864, 26833422, 26918938, 27834917 View all (25 more)
Glioma	Inhibit	40514723
Heart Defects Congenital	Associate	22318994
Hematologic Diseases	Associate	14592816
Hypertension Pulmonary	Associate	31248429
Immune System Diseases	Associate	30755392
Inflammation	Associate	34951647
Insulinoma	Associate	31462556
Intellectual Disability	Associate	10204841, 11015451, 1415255, 20602808, 21267006, 21666679, 25649377, 26918938, 28027854, 35962714, 8644709
Kidney Diseases	Associate	27151922
Klinefelter Syndrome	Associate	32959501
Leiomyosarcoma	Associate	29321523, 32299819, 33115433, 38488807
Leukemia Myeloid Acute	Associate	32011516
Leukemia Promyelocytic Acute	Associate	12953102
Li Fraumeni Syndrome	Associate	32191290
Liposarcoma	Associate	35672466
Liposarcoma Myxoid	Associate	35672466
Lung Neoplasms	Associate	31374064
Lymphatic Metastasis	Inhibit	27407094
Lymphoma Non Hodgkin	Associate	29084603, 32111869, 32883742, 33128602, 34626238, 36541551
Malignant mesenchymal tumor	Associate	32889887
Melanoma	Associate	30028779, 31320640, 31647501, 35123773, 37629169
Mental retardation hypotonic facies syndrome x linked 1	Associate	35962714, 8644709
Mental Retardation X Linked	Associate	11015451, 14990586, 17609377, 21218045, 23104868, 26997013, 29669917, 30081149, 35962714, 7697714
Mental Retardation X Linked 1	Associate	26997013
Migraine without Aura	Inhibit	33642283
Mitral Valve Insufficiency	Associate	22391447
Multiple Endocrine Neoplasia Type 1	Associate	22575867
Muscular Dystrophy Duchenne	Associate	28027854
Myelodysplastic Syndromes	Associate	14592816, 19055664, 26017030, 30803555
Neoplasm Metastasis	Associate	27407094, 36073547, 37394872, 37954063, 40624652
Neoplasm Recurrence Local	Associate	34326338
Neoplasms	Associate	21252315, 21719641, 22416102, 23104868, 23185534, 23765250, 23904111, 24703847, 24710217, 24810474, 25257301, 25593184, 25690891, 25971279, 26001292 View all (68 more)
Neoplasms	Inhibit	22575867, 27407094, 33627664, 34162889, 36675163
Neuroblastoma	Associate	22367537, 22416102, 26466568, 27009842, 31018240, 31128432, 32275708, 33056981, 33465163, 33627664, 35384159, 35768791, 36675163, 37540673
Neuroectodermal Tumors Primitive	Associate	27994516
Neuroendocrine Tumors	Associate	21252315, 21719641, 25210493, 27663587, 27994516, 28042953, 28115389, 28371511, 28591701, 30081149, 30315258, 31819132, 32345369, 33106857, 33536587 View all (4 more)
Neuroendocrine Tumors	Inhibit	22575867, 27259015, 27407094
Neurofibromatosis 1	Associate	30531922
Non functioning pancreatic endocrine tumor	Associate	37169669
Oligodendroglioma	Associate	23104868, 25427834, 32690110, 34020723, 34165590
Oligodendroglioma	Inhibit	23904111
Optic Nerve Glioma	Associate	28255664
Osteochondrodysplasias	Associate	37540673
Osteosarcoma	Associate	24703847, 28371217, 29706636, 30872698, 32191290, 36073547
Ovarian Neoplasms	Associate	37525498
Pancreatic Neoplasms	Associate	22829774, 31160355, 31462556
Paraganglioma Extra Adrenal	Associate	36760809
Pdgfrb Associated Chronic Eosinophilic Leukemia	Associate	32011516
pediatric multisystem inflammatory disease COVID 19 related	Associate	25743702
Personality Disorders	Associate	36856733
Pheochromocytoma	Associate	25608029, 39351526
Pituitary Neoplasms	Associate	32203094, 33106857
Plasmablastic Lymphoma	Associate	33297669
Polypoidal Choroidal Vasculopathy	Associate	32677196
Pontocerebellar Hypoplasia Type 1	Associate	28027854
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	27590521, 31501157
Prieto X linked mental retardation syndrome	Associate	8644709
Prostatic Neoplasms	Associate	31611308
Prostatitis	Inhibit	16847812
Retinoblastoma	Associate	32139107
Sarcoma	Associate	29100075
Sarcoma Kaposi	Associate	24453968
Seizures	Associate	36246555
Small Cell Lung Carcinoma	Associate	31374064
Soft Tissue Injuries	Associate	38488807
Stomach Neoplasms	Associate	33678158
Syndrome	Associate	27151922
Telomeric 22q13 Monosomy Syndrome	Associate	26055325, 27663587, 29545335, 29802247, 30081149
Thalamic Diseases	Associate	24285547
Urogenital Abnormalities	Associate	20602808
Uterine Cervical Neoplasms	Associate	33096476
Vitamin D Deficiency	Associate	30315258

ATRX (ATRX chromatin remodeler)