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	84464
Gene name	SLX4 structure-specific endonuclease subunit
Gene symbol	SLX4
Synonyms (NCBI Gene)	BTBD12FANCPMUS312
Chromosome	16
Chromosome location	16p13.3
Summary	This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork

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SNP ID	Visualize variation	Clinical significance	Consequence
rs77306735	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs137976282	C>A,G,T	Risk-factor, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs140600202	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147826749	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant
rs148547201	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant
rs149126845	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs150547487	T>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs373300793	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs746191123	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs752720263	C>-	Pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs757662453	C>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs760126773	G>A	Pathogenic	Coding sequence variant, stop gained
rs761665399	C>T	Likely-pathogenic	Splice acceptor variant
rs773642409	A>T	Pathogenic	Splice donor variant
rs781479923	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs878855162	GCTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1218169126	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1266198754	GCCACGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1268731319	C>A	Risk-factor	Coding sequence variant, missense variant
rs1315905872	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1567166544	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567170994	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567176006	CT>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1567178071	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1596515638	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596519854	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596519879	CGACAGTCACGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596520443	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1596534281	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant

237

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019533	hsa-miR-340-5p	Sequencing	20371350
MIRT028283	hsa-miR-32-5p	Sequencing	20371350
MIRT037462	hsa-miR-744-5p	CLASH	23622248
MIRT641336	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT641335	hsa-miR-6072	HITS-CLIP	23824327
MIRT641334	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT641333	hsa-miR-1291	HITS-CLIP	23824327
MIRT641332	hsa-miR-6775-3p	HITS-CLIP	23824327
MIRT641331	hsa-miR-6851-3p	HITS-CLIP	23824327
MIRT641330	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT641329	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT641328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT641327	hsa-miR-328-3p	HITS-CLIP	23824327
MIRT641326	hsa-miR-1207-3p	HITS-CLIP	23824327
MIRT554158	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT554157	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT028283	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT554156	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT554155	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT554154	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT554153	hsa-miR-137	PAR-CLIP	21572407
MIRT554152	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT554151	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT554150	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT554149	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT554148	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT554147	hsa-miR-5582-3p	PAR-CLIP	21572407
MIRT554146	hsa-miR-3163	PAR-CLIP	21572407
MIRT554145	hsa-miR-5002-3p	PAR-CLIP	21572407
MIRT554143	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT554144	hsa-miR-299-5p	PAR-CLIP	21572407
MIRT554142	hsa-miR-29b-2-5p	PAR-CLIP	21572407
MIRT554141	hsa-miR-659-3p	PAR-CLIP	21572407
MIRT641326	hsa-miR-1207-3p	HITS-CLIP	28735896
MIRT641333	hsa-miR-1291	HITS-CLIP	28735896
MIRT641336	hsa-miR-141-5p	HITS-CLIP	28735896
MIRT641327	hsa-miR-328-3p	HITS-CLIP	28735896
MIRT641330	hsa-miR-4691-5p	HITS-CLIP	28735896
MIRT641335	hsa-miR-6072	HITS-CLIP	28735896
MIRT641328	hsa-miR-6749-3p	HITS-CLIP	28735896
MIRT641332	hsa-miR-6775-3p	HITS-CLIP	28735896
MIRT641329	hsa-miR-6792-3p	HITS-CLIP	28735896
MIRT641331	hsa-miR-6851-3p	HITS-CLIP	28735896
MIRT641334	hsa-miR-6891-3p	HITS-CLIP	28735896
MIRT641336	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT641335	hsa-miR-6072	HITS-CLIP	23824327
MIRT641334	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT641333	hsa-miR-1291	HITS-CLIP	23824327
MIRT641332	hsa-miR-6775-3p	HITS-CLIP	23824327
MIRT641331	hsa-miR-6851-3p	HITS-CLIP	23824327
MIRT641330	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT641329	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT641328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT641327	hsa-miR-328-3p	HITS-CLIP	23824327
MIRT641326	hsa-miR-1207-3p	HITS-CLIP	23824327
MIRT554158	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT554157	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT028283	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT554156	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT554155	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT554154	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT554153	hsa-miR-137	PAR-CLIP	21572407
MIRT554152	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT554151	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT554150	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT554149	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT554148	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT554147	hsa-miR-5582-3p	PAR-CLIP	21572407
MIRT554146	hsa-miR-3163	PAR-CLIP	21572407
MIRT554145	hsa-miR-5002-3p	PAR-CLIP	21572407
MIRT554143	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT554144	hsa-miR-299-5p	PAR-CLIP	21572407
MIRT554142	hsa-miR-29b-2-5p	PAR-CLIP	21572407
MIRT554141	hsa-miR-659-3p	PAR-CLIP	21572407
MIRT1370321	hsa-miR-1227	CLIP-seq
MIRT1370322	hsa-miR-1273e	CLIP-seq
MIRT1370323	hsa-miR-181a	CLIP-seq
MIRT1370324	hsa-miR-181b	CLIP-seq
MIRT1370325	hsa-miR-181c	CLIP-seq
MIRT1370326	hsa-miR-181d	CLIP-seq
MIRT1370327	hsa-miR-1827	CLIP-seq
MIRT1370328	hsa-miR-2114	CLIP-seq
MIRT1370329	hsa-miR-25	CLIP-seq
MIRT1370330	hsa-miR-2964a-3p	CLIP-seq
MIRT1370331	hsa-miR-302f	CLIP-seq
MIRT1370332	hsa-miR-3126-3p	CLIP-seq
MIRT1370333	hsa-miR-3131	CLIP-seq
MIRT1370334	hsa-miR-3135	CLIP-seq
MIRT1370335	hsa-miR-3192	CLIP-seq
MIRT1370336	hsa-miR-32	CLIP-seq
MIRT1370337	hsa-miR-328	CLIP-seq
MIRT1370338	hsa-miR-363	CLIP-seq
MIRT1370339	hsa-miR-367	CLIP-seq
MIRT1370340	hsa-miR-3689a-3p	CLIP-seq
MIRT1370341	hsa-miR-3689c	CLIP-seq
MIRT1370342	hsa-miR-3929	CLIP-seq
MIRT1370343	hsa-miR-4262	CLIP-seq
MIRT1370344	hsa-miR-4314	CLIP-seq
MIRT1370345	hsa-miR-4419b	CLIP-seq
MIRT1370346	hsa-miR-4457	CLIP-seq
MIRT1370347	hsa-miR-4478	CLIP-seq
MIRT1370348	hsa-miR-4646-5p	CLIP-seq
MIRT1370349	hsa-miR-4649-3p	CLIP-seq
MIRT1370350	hsa-miR-4722-5p	CLIP-seq
MIRT1370351	hsa-miR-4728-5p	CLIP-seq
MIRT1370352	hsa-miR-4768-3p	CLIP-seq
MIRT1370353	hsa-miR-4793-3p	CLIP-seq
MIRT1370354	hsa-miR-485-5p	CLIP-seq
MIRT1370355	hsa-miR-494	CLIP-seq
MIRT1370356	hsa-miR-508-5p	CLIP-seq
MIRT1370357	hsa-miR-513b	CLIP-seq
MIRT1370358	hsa-miR-548e	CLIP-seq
MIRT1370359	hsa-miR-548f	CLIP-seq
MIRT1370360	hsa-miR-550a	CLIP-seq
MIRT1370361	hsa-miR-611	CLIP-seq
MIRT1370362	hsa-miR-642b	CLIP-seq
MIRT1370363	hsa-miR-659	CLIP-seq
MIRT1370364	hsa-miR-766	CLIP-seq
MIRT1370365	hsa-miR-92a	CLIP-seq
MIRT1370366	hsa-miR-92b	CLIP-seq
MIRT1370367	hsa-miR-940	CLIP-seq
MIRT1370322	hsa-miR-1273e	CLIP-seq
MIRT1370327	hsa-miR-1827	CLIP-seq
MIRT2109948	hsa-miR-1908	CLIP-seq
MIRT1370328	hsa-miR-2114	CLIP-seq
MIRT1370330	hsa-miR-2964a-3p	CLIP-seq
MIRT1370331	hsa-miR-302f	CLIP-seq
MIRT1370332	hsa-miR-3126-3p	CLIP-seq
MIRT1370335	hsa-miR-3192	CLIP-seq
MIRT1370337	hsa-miR-328	CLIP-seq
MIRT1370340	hsa-miR-3689a-3p	CLIP-seq
MIRT1370341	hsa-miR-3689c	CLIP-seq
MIRT1370342	hsa-miR-3929	CLIP-seq
MIRT1370344	hsa-miR-4314	CLIP-seq
MIRT1370345	hsa-miR-4419b	CLIP-seq
MIRT2109949	hsa-miR-4447	CLIP-seq
MIRT2109950	hsa-miR-4472	CLIP-seq
MIRT1370347	hsa-miR-4478	CLIP-seq
MIRT2109951	hsa-miR-4488	CLIP-seq
MIRT1370348	hsa-miR-4646-5p	CLIP-seq
MIRT1370349	hsa-miR-4649-3p	CLIP-seq
MIRT2109952	hsa-miR-4651	CLIP-seq
MIRT2109953	hsa-miR-4697-5p	CLIP-seq
MIRT1370350	hsa-miR-4722-5p	CLIP-seq
MIRT1370351	hsa-miR-4728-5p	CLIP-seq
MIRT1370352	hsa-miR-4768-3p	CLIP-seq
MIRT2109954	hsa-miR-4787-5p	CLIP-seq
MIRT1370354	hsa-miR-485-5p	CLIP-seq
MIRT1370360	hsa-miR-550a	CLIP-seq
MIRT2109955	hsa-miR-608	CLIP-seq
MIRT2109956	hsa-miR-663	CLIP-seq
MIRT1370367	hsa-miR-940	CLIP-seq
MIRT2333301	hsa-miR-1197	CLIP-seq
MIRT1370322	hsa-miR-1273e	CLIP-seq
MIRT2333302	hsa-miR-148a	CLIP-seq
MIRT2333303	hsa-miR-148b	CLIP-seq
MIRT2333304	hsa-miR-152	CLIP-seq
MIRT1370327	hsa-miR-1827	CLIP-seq
MIRT2333305	hsa-miR-1909	CLIP-seq
MIRT2333306	hsa-miR-2113	CLIP-seq
MIRT1370330	hsa-miR-2964a-3p	CLIP-seq
MIRT1370331	hsa-miR-302f	CLIP-seq
MIRT1370332	hsa-miR-3126-3p	CLIP-seq
MIRT1370335	hsa-miR-3192	CLIP-seq
MIRT1370337	hsa-miR-328	CLIP-seq
MIRT2333307	hsa-miR-3664-3p	CLIP-seq
MIRT1370340	hsa-miR-3689a-3p	CLIP-seq
MIRT1370341	hsa-miR-3689c	CLIP-seq
MIRT1370342	hsa-miR-3929	CLIP-seq
MIRT2333308	hsa-miR-4270	CLIP-seq
MIRT1370344	hsa-miR-4314	CLIP-seq
MIRT1370345	hsa-miR-4419b	CLIP-seq
MIRT2333309	hsa-miR-4436a	CLIP-seq
MIRT2333310	hsa-miR-4441	CLIP-seq
MIRT1370347	hsa-miR-4478	CLIP-seq
MIRT2333311	hsa-miR-4642	CLIP-seq
MIRT1370348	hsa-miR-4646-5p	CLIP-seq
MIRT1370349	hsa-miR-4649-3p	CLIP-seq
MIRT2333312	hsa-miR-4711-5p	CLIP-seq
MIRT1370350	hsa-miR-4722-5p	CLIP-seq
MIRT1370351	hsa-miR-4728-5p	CLIP-seq
MIRT1370352	hsa-miR-4768-3p	CLIP-seq
MIRT1370354	hsa-miR-485-5p	CLIP-seq
MIRT2333313	hsa-miR-759	CLIP-seq
MIRT1370367	hsa-miR-940	CLIP-seq
MIRT1370322	hsa-miR-1273e	CLIP-seq
MIRT1370327	hsa-miR-1827	CLIP-seq
MIRT1370330	hsa-miR-2964a-3p	CLIP-seq
MIRT1370331	hsa-miR-302f	CLIP-seq
MIRT2459979	hsa-miR-3122	CLIP-seq
MIRT1370340	hsa-miR-3689a-3p	CLIP-seq
MIRT1370341	hsa-miR-3689c	CLIP-seq
MIRT2459980	hsa-miR-3913-5p	CLIP-seq
MIRT2459981	hsa-miR-4679	CLIP-seq
MIRT1370350	hsa-miR-4722-5p	CLIP-seq
MIRT1370351	hsa-miR-4728-5p	CLIP-seq
MIRT1370352	hsa-miR-4768-3p	CLIP-seq
MIRT2459982	hsa-miR-566	CLIP-seq
MIRT1370367	hsa-miR-940	CLIP-seq
MIRT1370322	hsa-miR-1273e	CLIP-seq
MIRT1370327	hsa-miR-1827	CLIP-seq
MIRT1370330	hsa-miR-2964a-3p	CLIP-seq
MIRT1370331	hsa-miR-302f	CLIP-seq
MIRT1370350	hsa-miR-4722-5p	CLIP-seq
MIRT1370352	hsa-miR-4768-3p	CLIP-seq
MIRT1370367	hsa-miR-940	CLIP-seq
MIRT1370322	hsa-miR-1273e	CLIP-seq
MIRT1370327	hsa-miR-1827	CLIP-seq
MIRT1370330	hsa-miR-2964a-3p	CLIP-seq
MIRT1370331	hsa-miR-302f	CLIP-seq
MIRT2459979	hsa-miR-3122	CLIP-seq
MIRT2627608	hsa-miR-3613-3p	CLIP-seq
MIRT1370340	hsa-miR-3689a-3p	CLIP-seq
MIRT1370341	hsa-miR-3689c	CLIP-seq
MIRT2627609	hsa-miR-371-5p	CLIP-seq
MIRT2627610	hsa-miR-371b-5p	CLIP-seq
MIRT2459980	hsa-miR-3913-5p	CLIP-seq
MIRT2459981	hsa-miR-4679	CLIP-seq
MIRT1370350	hsa-miR-4722-5p	CLIP-seq
MIRT1370351	hsa-miR-4728-5p	CLIP-seq
MIRT1370352	hsa-miR-4768-3p	CLIP-seq
MIRT2459982	hsa-miR-566	CLIP-seq
MIRT1370367	hsa-miR-940	CLIP-seq
MIRT1370322	hsa-miR-1273e	CLIP-seq
MIRT1370327	hsa-miR-1827	CLIP-seq
MIRT1370330	hsa-miR-2964a-3p	CLIP-seq
MIRT1370331	hsa-miR-302f	CLIP-seq
MIRT2459979	hsa-miR-3122	CLIP-seq
MIRT1370340	hsa-miR-3689a-3p	CLIP-seq
MIRT1370341	hsa-miR-3689c	CLIP-seq
MIRT2459980	hsa-miR-3913-5p	CLIP-seq
MIRT2459981	hsa-miR-4679	CLIP-seq
MIRT1370350	hsa-miR-4722-5p	CLIP-seq
MIRT1370351	hsa-miR-4728-5p	CLIP-seq
MIRT1370352	hsa-miR-4768-3p	CLIP-seq
MIRT2459982	hsa-miR-566	CLIP-seq
MIRT1370367	hsa-miR-940	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000712	Process	Resolution of meiotic recombination intermediates	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	19595721, 19596235
GO:0000781	Component	Chromosome, telomeric region	IDA	19596235
GO:0000781	Component	Chromosome, telomeric region	IDA	24012755
GO:0000785	Component	Chromatin	IDA	19596235
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	19595721, 19595722, 19596235, 19596236, 24012755, 25416956, 25852190, 29892012, 32296183, 32707033, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006260	Process	DNA replication	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	19595722
GO:0006289	Process	Nucleotide-excision repair	IMP	19596236
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008047	Function	Enzyme activator activity	IDA	19596235
GO:0008270	Function	Zinc ion binding	IEA
GO:0010792	Process	DNA double-strand break processing involved in repair via single-strand annealing	IMP	19595721
GO:0032206	Process	Positive regulation of telomere maintenance	IDA	24012755
GO:0032206	Process	Positive regulation of telomere maintenance	IEA
GO:0033557	Component	Slx1-Slx4 complex	IBA
GO:0033557	Component	Slx1-Slx4 complex	IDA	19595721, 19596235, 19596236
GO:0033557	Component	Slx1-Slx4 complex	IEA
GO:0033557	Component	Slx1-Slx4 complex	TAS	24012755
GO:0046872	Function	Metal ion binding	IEA
GO:0048476	Component	Holliday junction resolvase complex	IDA	19595721, 19596235, 19596236
GO:0061820	Process	Telomeric D-loop disassembly	IMP	24012755
GO:0070522	Component	ERCC4-ERCC1 complex	IDA	19595721, 19596235, 19596236
GO:0072429	Process	Response to intra-S DNA damage checkpoint signaling	IMP	23361013
GO:0090656	Process	T-circle formation	IEA
GO:0090656	Process	T-circle formation	IMP	24012755
GO:0090656	Process	T-circle formation	ISS
GO:1904357	Process	Negative regulation of telomere maintenance via telomere lengthening	IMP	24012755
GO:1904431	Process	Positive regulation of t-circle formation	IEA
GO:1904431	Process	Positive regulation of t-circle formation	ISS

MIM	HGNC	e!Ensembl
613278	23845	ENSG00000188827

Q8IY92

Protein name

Structure-specific endonuclease subunit SLX4 (BTB/POZ domain-containing protein 12)

Protein function

Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from

PDB

4M7C , 4UYI , 4ZOU , 7BU5 , 7TUJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	681 → 793	BTB/POZ domain	Domain
PF09494	Slx4	1753 → 1810	Slx4 endonuclease	Domain

Sequence

MKLSVNEAQLGFYLGSLSHLSACPGIDPRSSEDQPESLKTGQMMDESDEDFKELCASFFQ
RVKKHGIKEVSGERKTQKAASNGTQIRSKLKRTKQTATKTKTLQGPAEKKPPSGSQAPRT
KKQRVTKWQASEPAHSVNGEGGVLASAPDPPVLRETAQNTQTGNQQEPSPNLSREKTREN
VPNSDSQPPPSCLTTAVPSPSKPRTAQLVLQRMQQFKRADPERLRHASEECSLEAAREEN
VPKDPQEEMMAGNVYGLGPPAPESDAAVALTLQQEFARVGASAHDDSLEEKGLFFCQICQ
KNLSAMNVTRREQHVNRCLDEAEKTLRPSVPQIPECPICGKPFLTLKSRTSHLKQCAVKM
EVGPQLLLQAVRLQTAQPEGSSSPPMFSFSDHSRGLKRRGPTSKKEPRKRRKVDEAPSED
LLVAMALSRSEMEPGAAVPALRLESAFSERIRPEAENKSRKKKPPVSPPLLLVQDSETTG
RQIEDRVALLLSEEVELSSTPPLPASRILKEGWERAGQCPPPPERKQSFLWEGSALTGAW
AMEDFYTARLVPPLVPQRPAQGLMQEPVPPLVPPEHSELSERRSPALHGTPTAGCGSRGP
SPSASQREHQALQDLVDLAREGLSASPWPGSGGLAGSEGTAGLDVVPGGLPLTGFVVPSQ
DKHPDRGGRTLLSLGLLVADFGAMVNNPHLSDVQFQTDSGEVLYAHKFVLYARCPLLIQY
VNNEGFSAVEDGVLTQRVLLGDVSTEAARTFLHYLYTADTGLPPGLSSELSSLAHRFGVS
ELVHLCEQVPIATDSEGKPWEEKEAENCESRAENFQELLRSMWADEEEEAETLLKSKDHE
EDQENVNEAEMEEIYEFAATQRKLLQEERAAGAGEDADWLEGGSPVSGQLLAGVQVQKQW
DKVEEMEPLEPGRDEAATTWEKMGQCALPPPQGQHSGARGAEAPEQEAPEEALGHSSCSS
PSRDCQAERKEGSLPHSDDAGDYEQLFSSTQGEISEPSQITSEPEEQSGAVRERGLEVSH
RLAPWQASPPHPCRFLLGPPQGGSPRGSHHTSGSSLSTPRSRGGTSQVGSPTLLSPAVPS
KQKRDRSILTLSKEPGHQKGKERRSVLECRNKGVLMFPEKSPSIDLTQSNPDHSSSRSQK
SSSKLNEEDEVILLLDSDEELELEQTKMKSISSDPLEEKKALEISPRSCELFSIIDVDAD
QEPSQSPPRSEAVLQQEDEGALPENRGSLGRRGAPWLFCDRESSPSEASTTDTSWLVPAT
PLASRSRDCSSQTQISSLRSGLAVQAVTQHTPRASVGNREGNEVAQKFSVIRPQTPPPQT
PSSCLTPVSPGTSDGRRQGHRSPSRPHPGGHPHSSPLAPHPISGDRAHFSRRFLKHSPPG
PSFLNQTPAGEVVEVGDSDDEQEVASHQANRSPPLDSDPPIPIDDCCWHMEPLSPIPIDH
WNLERTGPLSTSSPSRRMNEAADSRDCRSPGLLDTTPIRGSCTTQRKLQEKSSGAGSLGN
SRPSFLNSALWDVWDGEEQRPPETPPPAQMPSAGGAQKPEGLETPKGANRKKNLPPKVPI
TPMPQYSIMETPVLKKELDRFGVRPLPKRQMVLKLKEIFQYTHQTLDSDSEDESQSSQPL
LQAPHCQTLASQTYKPSRAGVHAQQEATTGPGAHRPKGPAKTKGPRHQRKHHESITPPSR
SPTKEAPPGLNDDAQIPASQESVATSVDGSDSSLSSQSSSSCEFGAAFESAGEEEGEGEV
SASQAAVQAADTDEALRCYIRSKPALYQKVLLYQPFELRELQAELRQNGLRVSSRRLLDF
LDTHCITFTTAATRREKLQGRRRQPRGKKKVERN

Sequence length

1834

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		Resolution of D-loop Structures through Holliday Junction Intermediates Fanconi Anemia Pathway

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Fanconi anemia	Pathogenic; Likely pathogenic	rs2040557100, rs1171341642, rs1028935047, rs767631456, rs774356384, rs143026968, rs751653739, rs763914156, rs2151123906, rs2040719850, rs1567166655, rs2151139911, rs761469284, rs759186986, rs1267428175 View all (78 more)	RCV002543548 RCV003637577 RCV002588415 RCV001960679 RCV001379156 View all (90 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia complementation group A	Likely pathogenic; Pathogenic	rs1596515638, rs1596519854, rs1596519879, rs1596520443	RCV000989490 RCV000989492 RCV000989493 RCV000989494	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia complementation group P	Likely pathogenic; Pathogenic	rs2040460653, rs1028935047, rs767631456, rs763914156, rs2040719850, rs2040540029, rs750371433, rs1267428175, rs1440022090, rs1294650594, rs2151139871, rs2548222345, rs1596534281, rs1218169126, rs773642409 View all (12 more)	RCV001336771 RCV005011023 RCV005006318 RCV001780319 RCV001536121 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glioblastoma multiforme	Likely pathogenic	rs1567176006	RCV000760997	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLX4-related disorder	Likely pathogenic; Pathogenic	rs200628199	RCV003411662	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs774356384	RCV005912613	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP P	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Olaparib response	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (89)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	28877996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	30623411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
bilateral breast cancer	Breast Cancer	BEFREE	28423363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	21399624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	21399624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	21240276, 21240277, 22911665, 23211700, 23840564, 24726326, 24733792, 28202063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	21805310, 22383991, 22911665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21805310, 22383991, 22401137, 22911665, 23840564, 29044504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23840564, 26201965, 35353237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36634747, 36965814	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28423363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35181726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	26453996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31308508	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	CLINVAR_DG	19596235, 19596236		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Fanconi Anemia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	BEFREE	21240275, 21240276, 21240277, 21605559, 22907656, 22911665, 23840564, 24794496, 24938228, 26453996, 27084631, 27428429		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	21240275, 21240277, 28297620		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CTD_human_DG	21240275, 21240276, 21240277		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	21240275, 22401137, 22895051, 23093618, 23620800, 23840564, 25758781, 26201965, 26841305, 27428429, 28423363	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	21240275, 21240276, 21240277, 21605559, 22907656, 22911665, 23840564, 24794496, 24938228, 26453996, 27084631, 27428429		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP P	Fanconi Anemia	GENOMICS_ENGLAND_DG	21240275, 21240277		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP P	Fanconi Anemia	BEFREE	30284473		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP P	Fanconi Anemia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP P	Fanconi Anemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33270637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30306255, 30623411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21805310, 22383991, 22401137, 22911665, 23840564, 29044504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23840564, 28423363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22911665, 28423363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	28687356, 35032816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25533188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28423363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32546565	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37733366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31308508	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	28877996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	26453996		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLX4 (SLX4 structure-specific endonuclease subunit)