DCLRE1C (DNA cross-link repair 1C)

Gene

• Entrez ID: 64421
• Gene name: DNA cross-link repair 1C
• Gene symbol: DCLRE1C
• Synonyms: A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C
• Chromosome: 10
• Chromosome location: 10p13
• Summary: This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5`-3` exonuclease activity; it also exhibits endonuclease activity on 5` and 3` overhangs and hairpins. The protein

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113870881	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121908156	G>A,T	Pathogenic	5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant, stop gained, intron variant
rs121908157	G>A,T	Pathogenic	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs143782439	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs146832860	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs373709012	TTC>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe deletion, non coding transcript variant, genic downstream transcript variant
rs757316102	G>A	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant, intron variant, 5 prime UTR variant
rs786200884	TCTACAA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205074	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant
rs786205456	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs886037924	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs886037925	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1340132582	G>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1564414523	C>G	Pathogenic	Intron variant, splice donor variant
rs1564418254	C>T	Pathogenic	Splice donor variant
rs1564446526	C>A	Pathogenic	Initiator codon variant, intron variant, splice donor variant
rs1588893751	->C	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1588896721	->CCTCCTC	Likely-pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1589050343	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1589064324	GAACGTAGTATCC>CAACATAGTATCT	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1589070600	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1589136659	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042846	hsa-miR-324-3p	CLASH	23622248
MIRT508989	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508988	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT515839	hsa-miR-4495	HITS-CLIP	21572407
MIRT508987	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508986	hsa-miR-3924	HITS-CLIP	21572407
MIRT508985	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT515840	hsa-miR-548n	PAR-CLIP	20371350
MIRT508989	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT515839	hsa-miR-4495	PAR-CLIP	20371350
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT508986	hsa-miR-3924	PAR-CLIP	20371350
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT508989	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515839	hsa-miR-4495	PAR-CLIP	21572407
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508986	hsa-miR-3924	PAR-CLIP	21572407
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508989	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508986	hsa-miR-3924	PAR-CLIP	21572407
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT515840	hsa-miR-548n	PAR-CLIP	23446348
MIRT508989	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515839	hsa-miR-4495	PAR-CLIP	23446348
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508986	hsa-miR-3924	PAR-CLIP	23446348
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508989	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508986	hsa-miR-3924	PAR-CLIP	23446348
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT736763	hsa-miR-128-3p	qRT-PCR	32528236
MIRT508989	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508988	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT515839	hsa-miR-4495	HITS-CLIP	21572407
MIRT508987	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508986	hsa-miR-3924	HITS-CLIP	21572407
MIRT508985	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT515840	hsa-miR-548n	PAR-CLIP	20371350
MIRT508989	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT515839	hsa-miR-4495	PAR-CLIP	20371350
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT508986	hsa-miR-3924	PAR-CLIP	20371350
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT508989	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515839	hsa-miR-4495	PAR-CLIP	21572407
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508986	hsa-miR-3924	PAR-CLIP	21572407
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508989	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508986	hsa-miR-3924	PAR-CLIP	21572407
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT515840	hsa-miR-548n	PAR-CLIP	23446348
MIRT508989	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515839	hsa-miR-4495	PAR-CLIP	23446348
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508986	hsa-miR-3924	PAR-CLIP	23446348
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508989	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508986	hsa-miR-3924	PAR-CLIP	23446348
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT926348	hsa-miR-1183	CLIP-seq
MIRT926349	hsa-miR-1278	CLIP-seq
MIRT926350	hsa-miR-150	CLIP-seq
MIRT926351	hsa-miR-154	CLIP-seq
MIRT926352	hsa-miR-3973	CLIP-seq
MIRT926353	hsa-miR-4684-5p	CLIP-seq
MIRT926354	hsa-miR-4742-3p	CLIP-seq
MIRT926355	hsa-miR-4768-5p	CLIP-seq
MIRT926356	hsa-miR-548k	CLIP-seq
MIRT926357	hsa-miR-1273g	CLIP-seq
MIRT926358	hsa-miR-140-5p	CLIP-seq
MIRT926359	hsa-miR-3545-5p	CLIP-seq
MIRT926360	hsa-miR-3591-5p	CLIP-seq
MIRT926361	hsa-miR-3665	CLIP-seq
MIRT926362	hsa-miR-3944-5p	CLIP-seq
MIRT926363	hsa-miR-4460	CLIP-seq
MIRT926364	hsa-miR-4727-3p	CLIP-seq
MIRT926365	hsa-miR-657	CLIP-seq
MIRT926366	hsa-miR-122	CLIP-seq
MIRT926367	hsa-miR-1231	CLIP-seq
MIRT926368	hsa-miR-1245	CLIP-seq
MIRT926369	hsa-miR-1254	CLIP-seq
MIRT926370	hsa-miR-129-5p	CLIP-seq
MIRT926371	hsa-miR-130a	CLIP-seq
MIRT926372	hsa-miR-130b	CLIP-seq
MIRT926373	hsa-miR-1343	CLIP-seq
MIRT926374	hsa-miR-138	CLIP-seq
MIRT926375	hsa-miR-149	CLIP-seq
MIRT926376	hsa-miR-1976	CLIP-seq
MIRT926377	hsa-miR-301a	CLIP-seq
MIRT926378	hsa-miR-301b	CLIP-seq
MIRT926379	hsa-miR-3064-5p	CLIP-seq
MIRT926380	hsa-miR-3116	CLIP-seq
MIRT926381	hsa-miR-3119	CLIP-seq
MIRT926382	hsa-miR-3135b	CLIP-seq
MIRT926383	hsa-miR-3187-3p	CLIP-seq
MIRT926384	hsa-miR-3652	CLIP-seq
MIRT926385	hsa-miR-3666	CLIP-seq
MIRT926386	hsa-miR-3672	CLIP-seq
MIRT926387	hsa-miR-378g	CLIP-seq
MIRT926388	hsa-miR-4295	CLIP-seq
MIRT926389	hsa-miR-4423-5p	CLIP-seq
MIRT926390	hsa-miR-4430	CLIP-seq
MIRT926391	hsa-miR-4435	CLIP-seq
MIRT926392	hsa-miR-4437	CLIP-seq
MIRT926393	hsa-miR-454	CLIP-seq
MIRT926394	hsa-miR-4674	CLIP-seq
MIRT926395	hsa-miR-4701-5p	CLIP-seq
MIRT926396	hsa-miR-4755-3p	CLIP-seq
MIRT926397	hsa-miR-4759	CLIP-seq
MIRT926398	hsa-miR-4794	CLIP-seq
MIRT926399	hsa-miR-4797-5p	CLIP-seq
MIRT926400	hsa-miR-548s	CLIP-seq
MIRT926401	hsa-miR-552	CLIP-seq
MIRT926402	hsa-miR-588	CLIP-seq
MIRT926403	hsa-miR-654-3p	CLIP-seq
MIRT926404	hsa-miR-661	CLIP-seq
MIRT926405	hsa-miR-764	CLIP-seq
MIRT926406	hsa-miR-892a	CLIP-seq
MIRT1974473	hsa-miR-642b	CLIP-seq
MIRT2209875	hsa-miR-216a	CLIP-seq
MIRT2209876	hsa-miR-4714-3p	CLIP-seq
MIRT926370	hsa-miR-129-5p	CLIP-seq
MIRT926381	hsa-miR-3119	CLIP-seq
MIRT2428133	hsa-miR-562	CLIP-seq
MIRT926366	hsa-miR-122	CLIP-seq
MIRT926369	hsa-miR-1254	CLIP-seq
MIRT926371	hsa-miR-130a	CLIP-seq
MIRT926372	hsa-miR-130b	CLIP-seq
MIRT926377	hsa-miR-301a	CLIP-seq
MIRT926378	hsa-miR-301b	CLIP-seq
MIRT926380	hsa-miR-3116	CLIP-seq
MIRT926381	hsa-miR-3119	CLIP-seq
MIRT926382	hsa-miR-3135b	CLIP-seq
MIRT926384	hsa-miR-3652	CLIP-seq
MIRT926385	hsa-miR-3666	CLIP-seq
MIRT926388	hsa-miR-4295	CLIP-seq
MIRT926389	hsa-miR-4423-5p	CLIP-seq
MIRT926390	hsa-miR-4430	CLIP-seq
MIRT926393	hsa-miR-454	CLIP-seq
MIRT926399	hsa-miR-4797-5p	CLIP-seq
MIRT926404	hsa-miR-661	CLIP-seq
MIRT2513699	hsa-miR-1184	CLIP-seq
MIRT926366	hsa-miR-122	CLIP-seq
MIRT926367	hsa-miR-1231	CLIP-seq
MIRT926368	hsa-miR-1245	CLIP-seq
MIRT926369	hsa-miR-1254	CLIP-seq
MIRT2513700	hsa-miR-1297	CLIP-seq
MIRT926371	hsa-miR-130a	CLIP-seq
MIRT926372	hsa-miR-130b	CLIP-seq
MIRT926373	hsa-miR-1343	CLIP-seq
MIRT2513701	hsa-miR-1912	CLIP-seq
MIRT2513702	hsa-miR-1915	CLIP-seq
MIRT926376	hsa-miR-1976	CLIP-seq
MIRT2513703	hsa-miR-24	CLIP-seq
MIRT2513704	hsa-miR-26a	CLIP-seq
MIRT2513705	hsa-miR-26b	CLIP-seq
MIRT926377	hsa-miR-301a	CLIP-seq
MIRT926378	hsa-miR-301b	CLIP-seq
MIRT926380	hsa-miR-3116	CLIP-seq
MIRT926381	hsa-miR-3119	CLIP-seq
MIRT926382	hsa-miR-3135b	CLIP-seq
MIRT2513706	hsa-miR-3176	CLIP-seq
MIRT926384	hsa-miR-3652	CLIP-seq
MIRT926385	hsa-miR-3666	CLIP-seq
MIRT926387	hsa-miR-378g	CLIP-seq
MIRT2513707	hsa-miR-3922-3p	CLIP-seq
MIRT2513708	hsa-miR-4279	CLIP-seq
MIRT2513709	hsa-miR-4284	CLIP-seq
MIRT926388	hsa-miR-4295	CLIP-seq
MIRT2513710	hsa-miR-4312	CLIP-seq
MIRT2513711	hsa-miR-4418	CLIP-seq
MIRT926389	hsa-miR-4423-5p	CLIP-seq
MIRT926390	hsa-miR-4430	CLIP-seq
MIRT926392	hsa-miR-4437	CLIP-seq
MIRT2513712	hsa-miR-4438	CLIP-seq
MIRT2513713	hsa-miR-4465	CLIP-seq
MIRT2513714	hsa-miR-4512	CLIP-seq
MIRT926393	hsa-miR-454	CLIP-seq
MIRT926394	hsa-miR-4674	CLIP-seq
MIRT2513715	hsa-miR-4722-3p	CLIP-seq
MIRT2513716	hsa-miR-4726-3p	CLIP-seq
MIRT2513717	hsa-miR-4757-5p	CLIP-seq
MIRT926397	hsa-miR-4759	CLIP-seq
MIRT926399	hsa-miR-4797-5p	CLIP-seq
MIRT2513718	hsa-miR-509-3-5p	CLIP-seq
MIRT2513719	hsa-miR-5095	CLIP-seq
MIRT2513720	hsa-miR-509-5p	CLIP-seq
MIRT2513721	hsa-miR-520a-5p	CLIP-seq
MIRT2513722	hsa-miR-525-5p	CLIP-seq
MIRT2513723	hsa-miR-550a	CLIP-seq
MIRT926401	hsa-miR-552	CLIP-seq
MIRT926403	hsa-miR-654-3p	CLIP-seq
MIRT926404	hsa-miR-661	CLIP-seq
MIRT926405	hsa-miR-764	CLIP-seq
MIRT2679069	hsa-miR-1182	CLIP-seq
MIRT2513699	hsa-miR-1184	CLIP-seq
MIRT926366	hsa-miR-122	CLIP-seq
MIRT926367	hsa-miR-1231	CLIP-seq
MIRT926368	hsa-miR-1245	CLIP-seq
MIRT926369	hsa-miR-1254	CLIP-seq
MIRT926371	hsa-miR-130a	CLIP-seq
MIRT926372	hsa-miR-130b	CLIP-seq
MIRT926373	hsa-miR-1343	CLIP-seq
MIRT926375	hsa-miR-149	CLIP-seq
MIRT2513701	hsa-miR-1912	CLIP-seq
MIRT926376	hsa-miR-1976	CLIP-seq
MIRT2679070	hsa-miR-2113	CLIP-seq
MIRT2513703	hsa-miR-24	CLIP-seq
MIRT926377	hsa-miR-301a	CLIP-seq
MIRT926378	hsa-miR-301b	CLIP-seq
MIRT926379	hsa-miR-3064-5p	CLIP-seq
MIRT926380	hsa-miR-3116	CLIP-seq
MIRT926381	hsa-miR-3119	CLIP-seq
MIRT2679071	hsa-miR-3131	CLIP-seq
MIRT926382	hsa-miR-3135b	CLIP-seq
MIRT2679072	hsa-miR-3143	CLIP-seq
MIRT2679073	hsa-miR-3614-3p	CLIP-seq
MIRT926384	hsa-miR-3652	CLIP-seq
MIRT926385	hsa-miR-3666	CLIP-seq
MIRT2679074	hsa-miR-3691-3p	CLIP-seq
MIRT926387	hsa-miR-378g	CLIP-seq
MIRT2513709	hsa-miR-4284	CLIP-seq
MIRT926388	hsa-miR-4295	CLIP-seq
MIRT2679075	hsa-miR-4297	CLIP-seq
MIRT2513711	hsa-miR-4418	CLIP-seq
MIRT926389	hsa-miR-4423-5p	CLIP-seq
MIRT926390	hsa-miR-4430	CLIP-seq
MIRT926392	hsa-miR-4437	CLIP-seq
MIRT926393	hsa-miR-454	CLIP-seq
MIRT926394	hsa-miR-4674	CLIP-seq
MIRT2679076	hsa-miR-4715-3p	CLIP-seq
MIRT2679077	hsa-miR-4752	CLIP-seq
MIRT926397	hsa-miR-4759	CLIP-seq
MIRT926398	hsa-miR-4794	CLIP-seq
MIRT926399	hsa-miR-4797-5p	CLIP-seq
MIRT2513718	hsa-miR-509-3-5p	CLIP-seq
MIRT2513720	hsa-miR-509-5p	CLIP-seq
MIRT2679078	hsa-miR-543	CLIP-seq
MIRT926401	hsa-miR-552	CLIP-seq
MIRT2428133	hsa-miR-562	CLIP-seq
MIRT2679079	hsa-miR-611	CLIP-seq
MIRT926403	hsa-miR-654-3p	CLIP-seq
MIRT926404	hsa-miR-661	CLIP-seq
MIRT926405	hsa-miR-764	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IDA	11955432
GO:0002250	Process	Adaptive immune response	IEA
GO:0003684	Function	Damaged DNA binding	IBA	21873635
GO:0004519	Function	Endonuclease activity	TAS
GO:0005515	Function	Protein binding	IPI	22529269, 23219551, 25941166
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IBA	21873635
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS
GO:0008409	Function	5'-3' exonuclease activity	IDA	11955432
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0031848	Process	Protection from non-homologous end joining at telomere	IBA	21873635
GO:0033151	Process	V(D)J recombination	IEA
GO:0035312	Function	5'-3' exodeoxyribonuclease activity	IBA	21873635
GO:0036297	Process	Interstrand cross-link repair	IBA	21873635
GO:0070419	Component	Nonhomologous end joining complex	IDA	25941166
GO:0090305	Process	Nucleic acid phosphodiester bond hydrolysis	IEA

Other IDs

• MIM: 605988
• HGNC: 17642
• e!Ensembl: ENSG00000152457

Protein

• UniProt ID: Q96SD1
• Protein name: Protein artemis (EC 3.1.-.-) (DNA cross-link repair 1C protein) (Protein A-SCID) (SNM1 homolog C) (hSNM1C) (SNM1-like protein)
• Protein function: Nuclease involved in DNA non-homologous end joining (NHEJ); required for double-strand break repair and V(D)J recombination (PubMed:11336668, PubMed:11955432, PubMed:12055248, PubMed:14744996, PubMed:15071507, PubMed:15574326, PubMed:15936993).
• PDB: 3W1B, 3W1G, 4HTP, 6TT5, 6WNL, 6WO0, 7ABS, 7AF1, 7AFS, 7AFU, 7AGI, 7APV, 7SGL, 7TYR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07522	DRMBL	239 → 345	DNA repair metallo-beta-lactamase	Domain

• Sequence:

  MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLY
  CSPVTKELLLTSPKYRFWKKRIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSV
  MFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQSVYLDTTFCDPRFYQIPSRE
  ECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGVQVHVNKLDMFRNMPE
  ILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRK
  TNVIVRTGESSYRACFSFHSSYSEIKDFLSYLCPVNAYPNVIPVGTTMDKVVEILKPLCR
  SSQSTEPKYKPLGKLKRARTVHRDSEEEDDYLFDDPLPIPLRHKVPYPETFHPEVFSMTA
  VSEKQPEKLRQTPGCCRAECMQSSRFTNFVDCEESNSESEEEVGIPASLQGDLGSVLHLQ
  KADGDVPQWEVFFKRNDEITDESLENFPSSTVAGGSQSPKLFSDSDGESTHISSQNSSQS
  THITEQGSQGWDSQSDTVLLSSQERNSGDITSLDKADYRPTIKENIPASLMEQNVICPKD
  TYSDLKSRDKDVTIVPSTGEPTTLSSETHIPEEKSLLNLSTNADSQSSSDFEVPSTPEAE
  LPKREHLQYLYEKLATGESIAVKKRKCSLLDT

• Sequence length: 692

Pathways

KEGG:

Non-homologous end-joining
Primary immunodeficiency

Reactome:

Nonhomologous End-Joining (NHEJ)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Combined immunodeficiency	Severe combined immunodeficiency with sensitivity to ionizing radiation	rs121908717, rs121908714, rs121908716, rs199422327, rs121908715, rs121908739, rs121908740, rs121908723, rs387906267, rs121908735, rs121908721, rs1194494050, rs2123516908, rs587776534, rs199422328, rs121908722, rs121908730, rs121908731, rs121908725, rs121908733, rs121908719, rs121908727, rs121908724, rs771266745, rs746052951, rs79281338, rs761242509, rs886041796, rs1057520217, rs751635016, rs763595926, rs778809577, rs780014431, rs1555845120, rs528390681, rs778343059, rs1555843178, rs766590645, rs1555844120, rs1312320956, rs1555844006, rs757796081, rs1555844395, rs1555844616, rs1555844617, rs749484894, rs751147673, rs1452483770, rs1568845361, rs758073965, rs1555844600, rs1209280928, rs1600921786, rs2065317387, rs2065325961, rs1225623204, rs1233957241, rs763478578	11336668, 12592555, 12921762, 19953608, 12406895, 12569164, 12055248, 25917813, 21147755
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Migraine	Migraine Disorders	rs794727411	23793025
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Severe combined immunodeficiency disease	Severe Combined Immunodeficiency, Combined immunodeficiency, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, Athabaskan severe combined immunodeficiency, SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL, Severe combined immunodeficiency due to DCLRE1C deficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	12055248

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Aphthous ulcer	Recurrent aphthous ulcer
Aplasia of the thymus	Congenital absence of thymus
Congenital hypoplasia of thymus	Congenital hypoplasia of thymus
Eosinophilia	Eosinophilia
Exfoliative dermatitis	Exfoliative dermatitis
Genital ulcers	Genital ulcers
Hashimoto disease	Hashimoto Disease
Hypoproteinemia	Hypoproteinemia
Omenn syndrome	Omenn Syndrome		15731174, 15071507, 19953608, 25917813
Oral ulcer	Oral Ulcer
Otitis media	Otitis Media	rs601338, rs1047781, rs1800028
Reticuloendotheliosis with eosinophilia	Reticuloendotheliosis, familial, with eosinophilia
Thyroiditis	Thyroiditis
Vitiligo	Vitiligo