NPAT (nuclear protein, coactivator of histone transcription)

Gene

• Entrez ID: 4863
• Gene name: Nuclear protein, coactivator of histone transcription
• Gene symbol: NPAT
• Synonyms (NCBI Gene): E14, E14/NPAT, p220
• Chromosome: 11
• Chromosome location: 11q22.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000261	hsa-miR-17-5p	Luciferase reporter assay	19734348
MIRT440099	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT472058	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT472057	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT472056	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT472055	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT000261	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT440101	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT472054	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT472052	hsa-miR-3609	PAR-CLIP	23592263
MIRT472053	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT472051	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT472050	hsa-miR-595	PAR-CLIP	23592263
MIRT472049	hsa-miR-4797-5p	PAR-CLIP	23592263
MIRT472048	hsa-miR-4773	PAR-CLIP	23592263
MIRT472047	hsa-miR-3925-5p	PAR-CLIP	23592263
MIRT472046	hsa-miR-5586-3p	PAR-CLIP	23592263
MIRT472045	hsa-miR-1245a	PAR-CLIP	23592263
MIRT472044	hsa-miR-8079	PAR-CLIP	23592263
MIRT472043	hsa-miR-759	PAR-CLIP	23592263
MIRT472042	hsa-miR-4765	PAR-CLIP	23592263
MIRT472041	hsa-miR-383-5p	PAR-CLIP	23592263
MIRT472040	hsa-miR-4772-5p	PAR-CLIP	23592263
MIRT472039	hsa-miR-520a-5p	PAR-CLIP	23592263
MIRT472038	hsa-miR-525-5p	PAR-CLIP	23592263
MIRT472037	hsa-miR-3180-5p	PAR-CLIP	23592263
MIRT440101	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT440099	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440101	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT000261	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT472055	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT472057	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT472056	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT440099	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440099	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT472058	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT472057	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT472056	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT472055	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT000261	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT440101	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT472054	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT472052	hsa-miR-3609	PAR-CLIP	23592263
MIRT472053	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT472051	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT472050	hsa-miR-595	PAR-CLIP	23592263
MIRT472049	hsa-miR-4797-5p	PAR-CLIP	23592263
MIRT472048	hsa-miR-4773	PAR-CLIP	23592263
MIRT472047	hsa-miR-3925-5p	PAR-CLIP	23592263
MIRT472046	hsa-miR-5586-3p	PAR-CLIP	23592263
MIRT472045	hsa-miR-1245a	PAR-CLIP	23592263
MIRT472044	hsa-miR-8079	PAR-CLIP	23592263
MIRT472043	hsa-miR-759	PAR-CLIP	23592263
MIRT472042	hsa-miR-4765	PAR-CLIP	23592263
MIRT472041	hsa-miR-383-5p	PAR-CLIP	23592263
MIRT472040	hsa-miR-4772-5p	PAR-CLIP	23592263
MIRT472039	hsa-miR-520a-5p	PAR-CLIP	23592263
MIRT472038	hsa-miR-525-5p	PAR-CLIP	23592263
MIRT472037	hsa-miR-3180-5p	PAR-CLIP	23592263
MIRT1190419	hsa-miR-106a	CLIP-seq
MIRT1190420	hsa-miR-106b	CLIP-seq
MIRT1190421	hsa-miR-124	CLIP-seq
MIRT1190422	hsa-miR-1264	CLIP-seq
MIRT1190423	hsa-miR-1276	CLIP-seq
MIRT1190424	hsa-miR-1283	CLIP-seq
MIRT1190425	hsa-miR-130a	CLIP-seq
MIRT1190426	hsa-miR-130b	CLIP-seq
MIRT1190427	hsa-miR-135a	CLIP-seq
MIRT1190428	hsa-miR-135b	CLIP-seq
MIRT1190429	hsa-miR-142-5p	CLIP-seq
MIRT1190430	hsa-miR-17	CLIP-seq
MIRT1190431	hsa-miR-191	CLIP-seq
MIRT1190432	hsa-miR-200b	CLIP-seq
MIRT1190433	hsa-miR-200c	CLIP-seq
MIRT1190434	hsa-miR-20a	CLIP-seq
MIRT1190435	hsa-miR-20b	CLIP-seq
MIRT1190436	hsa-miR-24	CLIP-seq
MIRT1190437	hsa-miR-301a	CLIP-seq
MIRT1190438	hsa-miR-301b	CLIP-seq
MIRT1190439	hsa-miR-3120-3p	CLIP-seq
MIRT1190440	hsa-miR-3145-3p	CLIP-seq
MIRT1190441	hsa-miR-3160-5p	CLIP-seq
MIRT1190442	hsa-miR-3168	CLIP-seq
MIRT1190443	hsa-miR-3183	CLIP-seq
MIRT1190444	hsa-miR-33a	CLIP-seq
MIRT1190445	hsa-miR-33b	CLIP-seq
MIRT1190446	hsa-miR-340	CLIP-seq
MIRT1190447	hsa-miR-3607-3p	CLIP-seq
MIRT1190448	hsa-miR-3622a-5p	CLIP-seq
MIRT1190449	hsa-miR-3646	CLIP-seq
MIRT1190450	hsa-miR-3665	CLIP-seq
MIRT1190451	hsa-miR-3666	CLIP-seq
MIRT1190452	hsa-miR-3686	CLIP-seq
MIRT1190453	hsa-miR-369-3p	CLIP-seq
MIRT1190454	hsa-miR-374a	CLIP-seq
MIRT1190455	hsa-miR-374b	CLIP-seq
MIRT1190456	hsa-miR-374c	CLIP-seq
MIRT1190457	hsa-miR-3919	CLIP-seq
MIRT1190458	hsa-miR-3942-3p	CLIP-seq
MIRT1190459	hsa-miR-4282	CLIP-seq
MIRT1190460	hsa-miR-4284	CLIP-seq
MIRT1190461	hsa-miR-429	CLIP-seq
MIRT1190462	hsa-miR-4295	CLIP-seq
MIRT1190463	hsa-miR-4311	CLIP-seq
MIRT1190464	hsa-miR-4423-3p	CLIP-seq
MIRT1190465	hsa-miR-4473	CLIP-seq
MIRT1190466	hsa-miR-4475	CLIP-seq
MIRT1190467	hsa-miR-4477b	CLIP-seq
MIRT1190468	hsa-miR-4495	CLIP-seq
MIRT1190469	hsa-miR-454	CLIP-seq
MIRT1190470	hsa-miR-4670-3p	CLIP-seq
MIRT1190471	hsa-miR-4671-3p	CLIP-seq
MIRT1190472	hsa-miR-4699-3p	CLIP-seq
MIRT1190473	hsa-miR-4723-3p	CLIP-seq
MIRT1190474	hsa-miR-4744	CLIP-seq
MIRT1190475	hsa-miR-4753-3p	CLIP-seq
MIRT1190476	hsa-miR-4760-5p	CLIP-seq
MIRT1190477	hsa-miR-4768-5p	CLIP-seq
MIRT1190478	hsa-miR-506	CLIP-seq
MIRT1190479	hsa-miR-519a	CLIP-seq
MIRT1190480	hsa-miR-519b-3p	CLIP-seq
MIRT1190481	hsa-miR-519c-3p	CLIP-seq
MIRT1190482	hsa-miR-519d	CLIP-seq
MIRT1190483	hsa-miR-520d-5p	CLIP-seq
MIRT1190484	hsa-miR-524-5p	CLIP-seq
MIRT1190485	hsa-miR-548ah	CLIP-seq
MIRT1190486	hsa-miR-548c-3p	CLIP-seq
MIRT1190487	hsa-miR-548k	CLIP-seq
MIRT1190488	hsa-miR-561	CLIP-seq
MIRT1190489	hsa-miR-583	CLIP-seq
MIRT1190490	hsa-miR-590-3p	CLIP-seq
MIRT1190491	hsa-miR-600	CLIP-seq
MIRT1190492	hsa-miR-627	CLIP-seq
MIRT1190493	hsa-miR-645	CLIP-seq
MIRT1190494	hsa-miR-655	CLIP-seq
MIRT1190495	hsa-miR-657	CLIP-seq
MIRT1190496	hsa-miR-887	CLIP-seq
MIRT1190497	hsa-miR-889	CLIP-seq
MIRT1190498	hsa-miR-924	CLIP-seq
MIRT1190499	hsa-miR-93	CLIP-seq
MIRT1190419	hsa-miR-106a	CLIP-seq
MIRT1190420	hsa-miR-106b	CLIP-seq
MIRT2055131	hsa-miR-1284	CLIP-seq
MIRT1190430	hsa-miR-17	CLIP-seq
MIRT1190434	hsa-miR-20a	CLIP-seq
MIRT1190435	hsa-miR-20b	CLIP-seq
MIRT2055132	hsa-miR-219-2-3p	CLIP-seq
MIRT2055133	hsa-miR-330-3p	CLIP-seq
MIRT2055134	hsa-miR-338-5p	CLIP-seq
MIRT2055135	hsa-miR-3688-3p	CLIP-seq
MIRT2055136	hsa-miR-4328	CLIP-seq
MIRT2055137	hsa-miR-450b-5p	CLIP-seq
MIRT2055138	hsa-miR-507	CLIP-seq
MIRT1190482	hsa-miR-519d	CLIP-seq
MIRT1190485	hsa-miR-548ah	CLIP-seq
MIRT2055139	hsa-miR-557	CLIP-seq
MIRT2055140	hsa-miR-582-5p	CLIP-seq
MIRT1190499	hsa-miR-93	CLIP-seq
MIRT1190419	hsa-miR-106a	CLIP-seq
MIRT1190420	hsa-miR-106b	CLIP-seq
MIRT2284081	hsa-miR-1245	CLIP-seq
MIRT2284082	hsa-miR-129-5p	CLIP-seq
MIRT1190427	hsa-miR-135a	CLIP-seq
MIRT1190428	hsa-miR-135b	CLIP-seq
MIRT1190429	hsa-miR-142-5p	CLIP-seq
MIRT2284083	hsa-miR-144	CLIP-seq
MIRT1190430	hsa-miR-17	CLIP-seq
MIRT1190434	hsa-miR-20a	CLIP-seq
MIRT1190435	hsa-miR-20b	CLIP-seq
MIRT2284084	hsa-miR-2355-5p	CLIP-seq
MIRT1190436	hsa-miR-24	CLIP-seq
MIRT2284085	hsa-miR-3065-5p	CLIP-seq
MIRT1190439	hsa-miR-3120-3p	CLIP-seq
MIRT2284086	hsa-miR-3148	CLIP-seq
MIRT1190441	hsa-miR-3160-5p	CLIP-seq
MIRT2284087	hsa-miR-338-3p	CLIP-seq
MIRT2055134	hsa-miR-338-5p	CLIP-seq
MIRT1190446	hsa-miR-340	CLIP-seq
MIRT1190448	hsa-miR-3622a-5p	CLIP-seq
MIRT1190450	hsa-miR-3665	CLIP-seq
MIRT2055135	hsa-miR-3688-3p	CLIP-seq
MIRT2284088	hsa-miR-383	CLIP-seq
MIRT2284089	hsa-miR-3936	CLIP-seq
MIRT2284090	hsa-miR-3941	CLIP-seq
MIRT1190458	hsa-miR-3942-3p	CLIP-seq
MIRT1190459	hsa-miR-4282	CLIP-seq
MIRT1190460	hsa-miR-4284	CLIP-seq
MIRT2284091	hsa-miR-4310	CLIP-seq
MIRT1190463	hsa-miR-4311	CLIP-seq
MIRT1190464	hsa-miR-4423-3p	CLIP-seq
MIRT2284092	hsa-miR-4457	CLIP-seq
MIRT2284093	hsa-miR-4496	CLIP-seq
MIRT2055137	hsa-miR-450b-5p	CLIP-seq
MIRT2284094	hsa-miR-4639-3p	CLIP-seq
MIRT2284095	hsa-miR-466	CLIP-seq
MIRT2284096	hsa-miR-4668-5p	CLIP-seq
MIRT1190470	hsa-miR-4670-3p	CLIP-seq
MIRT2284097	hsa-miR-4672	CLIP-seq
MIRT2284098	hsa-miR-4691-5p	CLIP-seq
MIRT1190472	hsa-miR-4699-3p	CLIP-seq
MIRT1190476	hsa-miR-4760-5p	CLIP-seq
MIRT2284099	hsa-miR-4778-5p	CLIP-seq
MIRT2284100	hsa-miR-4795-3p	CLIP-seq
MIRT2284101	hsa-miR-499-3p	CLIP-seq
MIRT2284102	hsa-miR-499a-3p	CLIP-seq
MIRT2284103	hsa-miR-500a	CLIP-seq
MIRT2055138	hsa-miR-507	CLIP-seq
MIRT2284104	hsa-miR-513a-3p	CLIP-seq
MIRT2284105	hsa-miR-513b	CLIP-seq
MIRT1190479	hsa-miR-519a	CLIP-seq
MIRT1190480	hsa-miR-519b-3p	CLIP-seq
MIRT1190481	hsa-miR-519c-3p	CLIP-seq
MIRT1190482	hsa-miR-519d	CLIP-seq
MIRT2284106	hsa-miR-548ae	CLIP-seq
MIRT1190485	hsa-miR-548ah	CLIP-seq
MIRT2284107	hsa-miR-548aj	CLIP-seq
MIRT2284108	hsa-miR-548am	CLIP-seq
MIRT1190487	hsa-miR-548k	CLIP-seq
MIRT2284109	hsa-miR-548n	CLIP-seq
MIRT2284110	hsa-miR-548t	CLIP-seq
MIRT2284111	hsa-miR-548x	CLIP-seq
MIRT2055139	hsa-miR-557	CLIP-seq
MIRT1190488	hsa-miR-561	CLIP-seq
MIRT1190490	hsa-miR-590-3p	CLIP-seq
MIRT1190491	hsa-miR-600	CLIP-seq
MIRT2284112	hsa-miR-605	CLIP-seq
MIRT1190493	hsa-miR-645	CLIP-seq
MIRT1190495	hsa-miR-657	CLIP-seq
MIRT2284113	hsa-miR-876-3p	CLIP-seq
MIRT1190497	hsa-miR-889	CLIP-seq
MIRT1190499	hsa-miR-93	CLIP-seq
MIRT1190419	hsa-miR-106a	CLIP-seq
MIRT1190420	hsa-miR-106b	CLIP-seq
MIRT1190429	hsa-miR-142-5p	CLIP-seq
MIRT1190430	hsa-miR-17	CLIP-seq
MIRT1190434	hsa-miR-20a	CLIP-seq
MIRT1190435	hsa-miR-20b	CLIP-seq
MIRT1190441	hsa-miR-3160-5p	CLIP-seq
MIRT2391684	hsa-miR-3162-3p	CLIP-seq
MIRT1190446	hsa-miR-340	CLIP-seq
MIRT2391685	hsa-miR-3938	CLIP-seq
MIRT1190458	hsa-miR-3942-3p	CLIP-seq
MIRT2055136	hsa-miR-4328	CLIP-seq
MIRT1190470	hsa-miR-4670-3p	CLIP-seq
MIRT2391686	hsa-miR-4733-5p	CLIP-seq
MIRT1190476	hsa-miR-4760-5p	CLIP-seq
MIRT2284099	hsa-miR-4778-5p	CLIP-seq
MIRT1190479	hsa-miR-519a	CLIP-seq
MIRT1190480	hsa-miR-519b-3p	CLIP-seq
MIRT1190481	hsa-miR-519c-3p	CLIP-seq
MIRT1190482	hsa-miR-519d	CLIP-seq
MIRT1190485	hsa-miR-548ah	CLIP-seq
MIRT1190499	hsa-miR-93	CLIP-seq
MIRT2455348	hsa-miR-141	CLIP-seq
MIRT2455349	hsa-miR-194	CLIP-seq
MIRT2455350	hsa-miR-200a	CLIP-seq
MIRT1190466	hsa-miR-4475	CLIP-seq
MIRT1190467	hsa-miR-4477b	CLIP-seq
MIRT2055131	hsa-miR-1284	CLIP-seq
MIRT2455348	hsa-miR-141	CLIP-seq
MIRT2284083	hsa-miR-144	CLIP-seq
MIRT2455349	hsa-miR-194	CLIP-seq
MIRT2455350	hsa-miR-200a	CLIP-seq
MIRT2055132	hsa-miR-219-2-3p	CLIP-seq
MIRT2582194	hsa-miR-2276	CLIP-seq
MIRT2582195	hsa-miR-3119	CLIP-seq
MIRT2055133	hsa-miR-330-3p	CLIP-seq
MIRT2055134	hsa-miR-338-5p	CLIP-seq
MIRT2582196	hsa-miR-3678-3p	CLIP-seq
MIRT2055135	hsa-miR-3688-3p	CLIP-seq
MIRT2284090	hsa-miR-3941	CLIP-seq
MIRT2055136	hsa-miR-4328	CLIP-seq
MIRT2582197	hsa-miR-4446-5p	CLIP-seq
MIRT1190466	hsa-miR-4475	CLIP-seq
MIRT1190467	hsa-miR-4477b	CLIP-seq
MIRT2055137	hsa-miR-450b-5p	CLIP-seq
MIRT2284095	hsa-miR-466	CLIP-seq
MIRT2284097	hsa-miR-4672	CLIP-seq
MIRT1190472	hsa-miR-4699-3p	CLIP-seq
MIRT2582198	hsa-miR-4772-3p	CLIP-seq
MIRT2055138	hsa-miR-507	CLIP-seq
MIRT2582199	hsa-miR-544	CLIP-seq
MIRT2055139	hsa-miR-557	CLIP-seq
MIRT2055140	hsa-miR-582-5p	CLIP-seq
MIRT2055131	hsa-miR-1284	CLIP-seq
MIRT2455348	hsa-miR-141	CLIP-seq
MIRT2284083	hsa-miR-144	CLIP-seq
MIRT2455349	hsa-miR-194	CLIP-seq
MIRT2455350	hsa-miR-200a	CLIP-seq
MIRT2055132	hsa-miR-219-2-3p	CLIP-seq
MIRT2582194	hsa-miR-2276	CLIP-seq
MIRT2582195	hsa-miR-3119	CLIP-seq
MIRT2055133	hsa-miR-330-3p	CLIP-seq
MIRT2055134	hsa-miR-338-5p	CLIP-seq
MIRT2582196	hsa-miR-3678-3p	CLIP-seq
MIRT2055135	hsa-miR-3688-3p	CLIP-seq
MIRT2284090	hsa-miR-3941	CLIP-seq
MIRT2055136	hsa-miR-4328	CLIP-seq
MIRT2582197	hsa-miR-4446-5p	CLIP-seq
MIRT1190466	hsa-miR-4475	CLIP-seq
MIRT1190467	hsa-miR-4477b	CLIP-seq
MIRT2055137	hsa-miR-450b-5p	CLIP-seq
MIRT2284095	hsa-miR-466	CLIP-seq
MIRT2284097	hsa-miR-4672	CLIP-seq
MIRT1190472	hsa-miR-4699-3p	CLIP-seq
MIRT2582198	hsa-miR-4772-3p	CLIP-seq
MIRT2055138	hsa-miR-507	CLIP-seq
MIRT2582199	hsa-miR-544	CLIP-seq
MIRT1190486	hsa-miR-548c-3p	CLIP-seq
MIRT2055139	hsa-miR-557	CLIP-seq
MIRT2055140	hsa-miR-582-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	12665581

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	14585971, 17974976
GO:0003713	Function	Transcription coactivator activity	IMP	15988025, 17163457
GO:0003714	Function	Transcription corepressor activity	IMP	17163457
GO:0005515	Function	Protein binding	IPI	15988025, 18850719, 19170105
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15988025, 19170105
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	17068332
GO:0005737	Component	Cytoplasm	IDA	17068332
GO:0015030	Component	Cajal body	IDA	15988025, 17068332, 17577209, 19170105
GO:0015030	Component	Cajal body	IEA
GO:0044843	Process	Cell cycle G1/S phase transition	IMP	15988025
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	18850719
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18850719
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	15988025
GO:0097504	Component	Gemini of Cajal bodies	IDA	17068332

Other IDs

• MIM: 601448
• HGNC: 7896
• e!Ensembl: ENSG00000149308

Protein

• UniProt ID: Q14207
• Protein name: Protein NPAT (Nuclear protein of the ataxia telangiectasia mutated locus) (Nuclear protein of the ATM locus) (p220)
• Protein function: Required for progression through the G1 and S phases of the cell cycle and for S phase entry. Activates transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes in conjunction with MIZF. Also positively regulates the ATM, M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15712	NPAT_C	758 → 1427	NPAT C terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8743993, ECO:0000269|PubMed:8923007}.
• Sequence:

  MLLPSDVARLVLGYLQQENLISTCQTFILESSDLKEYAEHCTDEGFIPACLLSLFGKNLT
  TILNEYVAMKTKETSNNVPAIMSSLWKKLDHTLSQIRSMQSSPRFAGSQRARTRTGIAEI
  KRQRKLASQTAPASAELLTLPYLSGQFTTPPSTGTQVTRPSGQISDPSRSYFVVVNHSQS
  QDTVTTGEALNVIPGAQEKKAHASLMSPGRRKSESQRKSTTLSGPHSTIRNFQDPNAFAV
  EKQMVIENAREKILSNKSLQEKLAENINKFLTSDNNIAQVPKQTDNNPTEPETSIDEFLG
  LPSEIHMSEEAIQDILEQTESDPAFQALFDLFDYGKTKNNKNISQSISSQPMESNPSIVL
  ADETNLAVKGSFETEESDGQSGQPAFCTSYQNDDPLNALKNSNNHDVLRQEDQENFSQIS
  TSIQKKAFKTAVPTEQKCDIDITFESVPNLNDFNQRGNSNAECNPHCAELYTNQMSTETE
  MAIGIEKNSLSSNVPSESQLQPDQPDIPITSFVSLGCEANNENLILSGKSSQLLSQDTSL
  TGKPSKKSQFCENSNDTVKLKINFHGSKSSDSSEVHKSKIEINVLEPVMSQLSNCQDNSC
  LQSEILPVSVESSHLNVSGQVEIHLGDSLSSTKQPSNDSASVELNHTENEAQASKSENSQ
  EPSSSVKEENTIFLSLGGNANCEKVALTPPEGTPVENSHSLPPESVCSSVGDSHPESQNT
  DDKPSSNNSAEIDASNIVSLKVIISDDPFVSSDTELTSAVSSINGENLPTIILSSPTKSP
  TKNAELVKCLSSEETVGAVVYAEVGDSASMEQSLLTFKSEDSAVNNTQNEDGIAFSANVT
  PCVSKDGGYIQLMPATSTAFGNSNNILIATCVTDPTALGTSVSQSNVVVLPGNSAPMTAQ
  PLPPQLQTPPRSNSVFAVNQAVSPNFSQGSAIIIASPVQPVLQGMVGMIPVSVVGQNGNN
  FSTPPRQVLHMPLTAPVCNRSIPQFPVPPKSQKAQGLRNKPCIGKQVNNLVDSSGHSVGC
  HAQKTEVSDKSIATDLGKKSEETTVPFPEESIVPAAKPCHRRVLCFDSTTAPVANTQGPN
  HKMVSQNKERNAVSFPNLDSPNVSSTLKPPSNNAIKREKEKPPLPKILSKSESAISRHTT
  IRETQSEKKVSPTEIVLESFHKATANKENELCSDVERQKNPENSKLSIGQQNGGLRSEKS
  IASLQEMTKKQGTSSNNKNVLSVGTAVKDLKQEQTKSASSLITTEMLQDIQRHSSVSRLA
  DSSDLPVPRTPGSGAGEKHKEEPIDIIKAPSSRRFSEDSSTSKVMVPPVTPDLPACSPAS
  ETGSENSVNMAAHTLMILSRAAISRTTSATPLKDNTQQFRASSRSTTKKRKIEELDERER
  NSRPSSKNLTNSSIPMKKKKIKKKKLPSSFPAGMDVDKFLLSLHYDE

• Sequence length: 1427

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL COLORECTAL CANCER TYPE X	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NPAT-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Ataxia Telangiectasia	Associate	23977206, 8743993	★☆☆☆☆ Found in Text Mining only
Heart Failure	Associate	12601168	★☆☆☆☆ Found in Text Mining only
Language Disorders	Associate	23977206	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	19277982	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	20053773	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Associate	19277982	★☆☆☆☆ Found in Text Mining only