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	64421
Gene name	DNA cross-link repair 1C
Gene symbol	DCLRE1C
Synonyms (NCBI Gene)	A-SCIDDCLREC1CRS-SCIDSCIDASNM1C
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

Show/Hide all (22)

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

259

Show/Hide all (259)

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

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IDA	11955432
GO:0000723	Process	Telomere maintenance	IBA
GO:0000723	Process	Telomere maintenance	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004519	Function	Endonuclease activity	TAS
GO:0004527	Function	Exonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	22529269, 23219551, 23523427, 25941166, 28780862, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0006259	Process	DNA metabolic process	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IBA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS
GO:0006310	Process	DNA recombination	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008409	Function	5'-3' exonuclease activity	IDA	11955432
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0033151	Process	V(D)J recombination	IEA
GO:0035312	Function	5'-3' DNA exonuclease activity	IBA
GO:0036297	Process	Interstrand cross-link repair	IBA
GO:0051276	Process	Chromosome organization	IEA
GO:0070419	Component	Nonhomologous end joining complex	IBA
GO:0070419	Component	Nonhomologous end joining complex	IDA	25941166

MIM	HGNC	e!Ensembl
605988	17642	ENSG00000152457

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

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in the kidney, lung, pancreas and placenta (at the mRNA level). Expression is not increased in thymus or bone marrow, sites of V(D)J recombination. {ECO:0000269|PubMed:11336668}.

Sequence

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

Sequence length

692

Interactions

View interactions

	KEGG		Reactome
	Non-homologous end-joining Primary immunodeficiency		Nonhomologous End-Joining (NHEJ)

1302

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aicardi-Goutieres syndrome 1	Likely pathogenic	rs969498121	RCV004542188
Athabaskan severe combined immunodeficiency	Likely pathogenic; Pathogenic	rs2130944445, rs1834776385, rs121908157, rs786200884, rs765047440, rs2491634513, rs143144732, rs1839765652	RCV005614754 RCV005614687 RCV000004937 RCV001826416 RCV005616725 RCV004515802 RCV001829948 RCV001835359
Colon adenocarcinoma	Pathogenic	rs1162344514	RCV005913647
DCLRE1C-related disorder	Pathogenic	rs2131775994, rs121908156	RCV004758200 RCV005229764
Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely pathogenic	rs969498121	RCV004526885
Histiocytic medullary reticulosis	Likely pathogenic; Pathogenic	rs1407251815, rs1317003987, rs752655158, rs767758218, rs1346260747, rs1839625956, rs2130974126, rs969498121, rs2131776743, rs2131026813, rs2131027694, rs121908156, rs1564446526, rs121908157, rs121908159 View all (46 more)	RCV003462995 RCV003462975 RCV002506822 RCV004571097 RCV004571458 RCV003471244 RCV003470999 RCV003471090 RCV003475218 RCV005042616 RCV005032033 RCV000762806 RCV003466817 RCV003466818 RCV000004938 RCV003466819 RCV003475578 RCV003459952 RCV003459953 RCV003466115 RCV003466116 RCV003466117 RCV003459954 RCV003466118 RCV003466119 RCV003466120 RCV003466122 RCV003466123 RCV003466124 RCV003466125 RCV003466126 RCV003466129 RCV003459955 RCV003466130 RCV003466131 RCV003466132 RCV004574062 RCV004573367 RCV003983751 RCV004575765 RCV004575766 RCV004575767 RCV004575768 RCV004575769 RCV004575770 RCV004575771 RCV004575772 RCV004575773 RCV004575774 RCV004575775 RCV004575776 RCV004575777 RCV004575778 RCV004577290 RCV005038726 RCV003461064 RCV003467525 RCV003467786 RCV004570319 RCV004570438 RCV003469418 RCV003469469
Severe combined immunodeficiency disease	Likely pathogenic; Pathogenic	rs1317003987, rs969498121, rs1354336544, rs2492399115, rs121908156, rs2491626059, rs2491636150, rs1839956628, rs1839765652	RCV005429351 RCV004577007 RCV002271740 RCV004801193 RCV003486542 RCV003236472 RCV004526260 RCV004586189 RCV001267665
Severe combined immunodeficiency due to DCLRE1C deficiency	Likely pathogenic; Pathogenic	rs2130918080, rs1200768694, rs2131778656, rs755447150, rs1407251815, rs2130938370, rs2130943393, rs1317003987, rs752655158, rs767758218, rs1346260747, rs1839625956, rs2131778479, rs2130944445, rs2131775994 View all (90 more)	RCV001378176 RCV001387249 RCV001383395 RCV001383253 RCV001383945 RCV001384388 RCV001389043 RCV001381226 RCV002034546 RCV002034585 RCV001867593 RCV002012801 RCV001877090 RCV002028474 RCV001889175 RCV002037655 RCV001877975 RCV001905270 RCV001879615 RCV001883449 RCV001990826 RCV001993148 RCV002000105 RCV001965262 RCV002002535 RCV001941528 RCV001967693 RCV001885789 RCV001873884 RCV001998114 RCV001963645 RCV003096109 RCV002287294 RCV002287295 RCV002302853 RCV002302438 RCV003062249 RCV003062250 RCV003062251 RCV003062252 RCV003062253 RCV003987397 RCV000004929 RCV000004932 RCV000004933 RCV000004934 RCV000004935 RCV000703249 RCV001388406 RCV000644797 RCV002658792 RCV002810776 RCV002843748 RCV002871681 RCV002994511 RCV003018988 RCV003032800 RCV003043704 RCV003039812 RCV003059557 RCV000240842 RCV000240844 RCV003779007 RCV005047594 RCV003611650 RCV003611652 RCV003503656 RCV003503697 RCV003504371 RCV003502313 RCV003502037 RCV003503112 RCV003503049 RCV003503034 RCV003503160 RCV003503206 RCV003503400 RCV003611888 RCV003612607 RCV003612707 RCV003612900 RCV003613101 RCV003613072 RCV003613182 RCV003613063 RCV003613512 RCV003613482 RCV003612064 RCV003859003 RCV003856886 RCV003989253 RCV003990323 RCV005038726 RCV000824500 RCV000814078 RCV000803903 RCV000822442 RCV000988332 RCV001059183 RCV001068278 RCV001057029 RCV001057519 RCV001045920 RCV001386144 RCV001223880 RCV001205821 RCV001232221 RCV001230045 RCV001245169 RCV001349774
Severe combined immunodeficiency, partial	Pathogenic	rs786200884	RCV000004939
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1839625956, rs2492028268	RCV005925528 RCV005934683

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs41298886, rs41304332, rs41298896	RCV005914268 RCV005925349 RCV005890724
Cervical cancer	Benign	rs41304332, rs41298896, rs41297018	RCV005925350 RCV005890725 RCV005888709
Clear cell carcinoma of kidney	Benign	rs41298896, rs41297018	RCV005890726 RCV005888710
Colorectal cancer	Benign	rs41298896	RCV005890727
Familial cancer of breast	Uncertain significance	rs767573884	RCV005891796
Gastric cancer	Benign	rs41298886, rs41304332, rs41297018	RCV005914270 RCV005925352 RCV005888713
Hepatocellular carcinoma	Benign	rs41297018	RCV005888708
Lung cancer	Benign	rs41304332, rs41297018	RCV005925354 RCV005888717
Malignant lymphoma, large B-cell, diffuse	Benign	rs41298886, rs35927251	RCV005914269 RCV005891388
Ovarian serous cystadenocarcinoma	Benign	rs41297018	RCV005888714
Sarcoma	Benign	rs41304332, rs41297018	RCV005925351 RCV005888712
Squamous cell carcinoma of the head and neck	Uncertain significance	rs150854849	RCV005896830
Thymoma	Benign	rs41298886, rs41304332, rs41297018	RCV005914272 RCV005925353 RCV005888715
Uterine carcinosarcoma	Benign	rs41298886, rs35927251	RCV005914271 RCV005891389
Uterine corpus endometrial carcinoma	Benign	rs41298886, rs41304332, rs41298896, rs41297018	RCV005914273 RCV005925355 RCV005890728 RCV005888718
Uveal melanoma	Benign	rs41297018	RCV005888711

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	30947698
Cell Transformation Neoplastic	Associate	25563294
Dyslipidemias	Associate	30365130
Hyper IgM Immunodeficiency Syndrome	Associate	26476407
Hypertension	Associate	28562329
Immunologic Deficiency Syndromes	Associate	25917813, 26476407
Inflammatory Bowel Diseases	Associate	26476407
Leukemia Large Granular Lymphocytic	Associate	24144642
Lymphoma Large B Cell Diffuse	Associate	23960188
Neoplasms	Associate	23960188
Neuroblastoma	Associate	25563294
Primary Immunodeficiency Diseases	Associate	32265901
Radiation Injuries	Associate	35164800
Respiratory Tract Infections	Associate	26476407
Severe Combined Immunodeficiency	Associate	19912631, 22527898, 24144642, 25917813, 26476407, 29051008, 30154114, 32265901, 32691468, 32754152, 34220820, 35303369, 36546626, 40457861
X Linked Combined Immunodeficiency Diseases	Associate	29051008, 32691468

DCLRE1C (DNA cross-link repair 1C)