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

2825

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV001385184 RCV001387121 RCV001383057 RCV001386405 RCV003523095 RCV001919056 RCV001897705 RCV001945050 RCV002012901 RCV001962073 RCV002007247 RCV001993246 RCV001939619 RCV002009394 RCV001939355 RCV001953481 RCV001942290 RCV001904523 RCV002046815 RCV001951483 RCV001983443 RCV003089121 RCV002255810 RCV002257015 RCV002271953 RCV003096207 RCV003065713 RCV003091589 RCV002624970 RCV003112593 RCV002590023 RCV002634994 RCV002623088 RCV002627440 RCV002663405 RCV002725517 RCV002780418 RCV002785665 RCV002766685 RCV002820239 RCV002856769 RCV002866189 RCV002852674 RCV002857252 RCV002863450 RCV002926709 RCV002872733 RCV002937634 RCV003057872 RCV000229151 RCV003330473 RCV003778494 RCV003524044 RCV003522174 RCV003524305 RCV003525339 RCV003523793 RCV003524410 RCV003636078 RCV003636122 RCV003637965 RCV003637920 RCV003637945 RCV003636662 RCV003636729 RCV003637428 RCV003815971 RCV003843586 RCV003841637 RCV003855823 RCV003522921 RCV002513216 RCV000531680 RCV000537846 RCV000630894 RCV000630869 RCV000699361 RCV000701890 RCV002533067 RCV005092194 RCV001856168 RCV003768435 RCV000791729 RCV002550612 RCV001067996 RCV001037473 RCV001065245 RCV001383846 RCV001216460 RCV001239888
Fanconi anemia complementation group A	Likely pathogenic; Pathogenic	rs1596515638, rs1596519854, rs1596519879, rs1596520443	RCV000989490 RCV000989492 RCV000989493 RCV000989494
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 RCV001784993 RCV001783778 RCV002482537 RCV005017157 RCV004571248 RCV003447866 RCV004554987 RCV000024014 RCV000024015 RCV000024017 RCV000024018 RCV001536059 RCV001788304 RCV005021124 RCV000761356 RCV002307648 RCV002497677 RCV001194872 RCV001194849 RCV001194844 RCV005012670 RCV001293954
Glioblastoma multiforme	Likely pathogenic	rs1567176006	RCV000760997
SLX4-related disorder	Likely pathogenic; Pathogenic	rs200628199	RCV003411662
Uterine corpus endometrial carcinoma	Likely pathogenic	rs774356384	RCV005912613

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs113168577, rs149011965, rs78637028	RCV005915149 RCV005895384 RCV005894238
Adrenocortical carcinoma, hereditary	Benign; Uncertain significance	rs78637028, rs150712805	RCV005894239 RCV005899466
Cervical cancer	Benign; Likely benign	rs113168577, rs149011965	RCV005915150 RCV005895386
Cholangiocarcinoma	Benign	rs78637028	RCV005894242
Colorectal cancer	Benign	rs78637028	RCV005894241
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance	rs201192909, rs746191123	RCV005901239 RCV004698791
Gastric cancer	Uncertain significance	rs150712805	RCV005899467
Hepatoblastoma	Uncertain significance	rs765601038	RCV001843905
Hepatocellular carcinoma	Benign; Likely benign	rs149011965	RCV005895385
Hereditary cancer	Conflicting classifications of pathogenicity	rs149126845, rs745508761	RCV003492056 RCV005235501
Hereditary cancer-predisposing syndrome	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs201163062, rs201618094, rs863224277, rs116781836, rs114472821, rs144892556, rs114016359, rs115694169, rs147492092, rs1268731319	RCV005251302 RCV005251312 RCV000210791 RCV005638471 RCV005638470 RCV005638478 RCV005638477 RCV005638476 RCV005859344 RCV001005037
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	rs1478218856, rs111738042	RCV005626581 RCV005625472
Lung cancer	Uncertain significance	rs150712805	RCV005899468
Malignant tumor of breast	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs114472821, rs137976282, rs1596519823	RCV001269373 RCV001005038 RCV001005024
Malignant tumor of esophagus	Benign; Likely benign	rs2240883, rs200278096	RCV005922183 RCV005899539
Melanoma	Uncertain significance	rs780261532, rs748822509	RCV005900116 RCV005910945
Microcephaly	Uncertain significance	rs758785487	RCV001252938
Olaparib response	Conflicting classifications of pathogenicity	rs769950582	RCV003483767
Ovarian serous cystadenocarcinoma	Benign	rs2240883	RCV005922184
Pituitary stalk interruption syndrome	Uncertain significance	rs2040572269	RCV001257298
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance	rs201192909, rs200178217	RCV005901240 RCV005913753
Uveal melanoma	Benign	rs78637028	RCV005894240

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma Mucinous	Associate	32641744
Alternating hemiplegia of childhood	Associate	28877996
Anemia Hemolytic	Associate	30623411
Bloom Syndrome	Associate	21399624
Breast Neoplasms	Associate	23840564, 26201965, 35353237
Carcinoma Hepatocellular	Associate	36634747, 36965814
Chromosome Aberrations	Associate	21399624
Colorectal Neoplasms	Associate	35181726
Endometrial Neoplasms	Associate	31308508
Fanconi Anemia	Associate	21240275, 22401137, 22895051, 23093618, 23620800, 23840564, 25758781, 26201965, 26841305, 27428429, 28423363
Friedreich Ataxia 1	Associate	23211700
Growth Disorders	Associate	33270637
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30306255, 30623411
Leukemia Lymphocytic Chronic B Cell	Stimulate	26970083
Mesothelioma Malignant	Associate	28687356, 35032816
Neoplasms	Associate	21399624, 35181726, 37460928
Neoplasms	Inhibit	25533188
Ovarian Neoplasms	Associate	32546565
Peutz Jeghers Syndrome	Associate	34754157
Primary Ovarian Insufficiency	Associate	36732629
Prostatic Neoplasms	Associate	37733366
Stomach Neoplasms	Associate	31308508
Telomeric 22q13 Monosomy Syndrome	Associate	28877996

SLX4 (SLX4 structure-specific endonuclease subunit)