LIG3 (DNA ligase 3) - Rat Genome Database

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Gene: LIG3 (DNA ligase 3) Homo sapiens
Analyze
Symbol: LIG3
Name: DNA ligase 3
RGD ID: 1320452
HGNC Page HGNC:6600
Description: Enables DNA ligase (ATP) activity. Involved in DNA repair and negative regulation of mitochondrial DNA replication. Located in mitochondrion and nucleoplasm. Part of DNA ligase III-XRCC1 complex. Implicated in mitochondrial DNA depletion syndrome 20 and pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA ligase III; LIG2; LIG3alpha; ligase II, DNA, ATP-dependent; ligase III, DNA, ATP-dependent; MTDPS20; polydeoxyribonucleotide synthase [ATP] 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381734,980,512 - 35,010,872 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1734,980,512 - 35,009,743 (+)EnsemblGRCh38hg38GRCh38
GRCh371733,307,531 - 33,336,762 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361730,331,651 - 30,356,201 (+)NCBINCBI36Build 36hg18NCBI36
Build 341730,331,696 - 30,355,936NCBI
Celera1730,217,714 - 30,242,284 (+)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1729,493,447 - 29,518,012 (+)NCBIHuRef
CHM1_11733,371,911 - 33,396,481 (+)NCBICHM1_1
T2T-CHM13v2.01735,928,368 - 35,957,659 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
17alpha-ethynylestradiol  (ISO)
1H-pyrazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroperoxycyclophosphamide  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
C60 fullerene  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (EXP,ISO)
clofibrate  (ISO)
coumarin  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
formaldehyde  (EXP)
FR900359  (EXP)
genistein  (EXP)
glyphosate  (EXP)
indometacin  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
ivermectin  (EXP)
melatonin  (EXP,ISO)
methyl methanesulfonate  (EXP)
Methylazoxymethanol acetate  (ISO)
miconazole  (ISO)
monocrotophos  (EXP)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
potassium bromate  (EXP)
potassium chromate  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
valproic acid  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal cell morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of the extraocular muscles  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Abnormality of the hand  (IAGP)
Abnormality of the mitochondrion  (IAGP)
Anemia  (IAGP)
Arrhythmia  (IAGP)
Atrophic muscularis propria  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cachexia  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Childhood onset  (IAGP)
Cirrhosis  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased muscle mass  (IAGP)
Decreased number of large peripheral myelinated nerve fibers  (IAGP)
Decreased sensory nerve conduction velocity  (IAGP)
Dementia  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Diarrhea  (IAGP)
Diffuse leukoencephalopathy  (IAGP)
Distal muscle weakness  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Early young adult onset  (IAGP)
Easy fatigability  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
External ophthalmoplegia  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Headache  (IAGP)
Hyperalaninemia  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Increased CSF protein concentration  (IAGP)
Intellectual disability  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Involuntary movements  (IAGP)
Juvenile onset  (IAGP)
Lactic acidosis  (IAGP)
Leukoencephalopathy  (IAGP)
Macrovesicular hepatic steatosis  (IAGP)
Macular degeneration  (IAGP)
Mental deterioration  (IAGP)
Multiple mitochondrial DNA deletions  (IAGP)
Myoclonus  (IAGP)
Nausea  (IAGP)
Neurogenic bladder  (IAGP)
Ophthalmoparesis  (IAGP)
Paresthesia  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Poor appetite  (IAGP)
Ptosis  (IAGP)
Ragged-red muscle fibers  (IAGP)
Recurrent infections  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Small intestinal dysmotility  (IAGP)
Stroke-like episode  (IAGP)
Thin corpus callosum  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. DNA polymerases and repair synthesis in NER in human cells. Lehmann AR DNA Repair (Amst). 2011 Jul 15;10(7):730-3. doi: 10.1016/j.dnarep.2011.04.023. Epub 2011 May 20.
3. DNA repair gene polymorphisms and risk of pancreatic cancer. Li D, etal., Clin Cancer Res. 2009 Jan 15;15(2):740-6.
4. Ischemic preconditioning induces XRCC1, DNA polymerase-beta, and DNA ligase III and correlates with enhanced base excision repair. Li N, etal., DNA Repair (Amst). 2007 Sep 1;6(9):1297-306. Epub 2007 Apr 6.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7565692   PMID:7760816   PMID:8264637   PMID:8532526   PMID:8889548   PMID:8978692   PMID:9001252   PMID:9136882   PMID:9363683   PMID:9539976   PMID:9705932   PMID:9809069  
PMID:10207110   PMID:11163244   PMID:11281714   PMID:11352725   PMID:11909950   PMID:11994275   PMID:12477932   PMID:12897160   PMID:14627836   PMID:14702039   PMID:15205355   PMID:15260972  
PMID:15367657   PMID:15653642   PMID:15744309   PMID:15758953   PMID:16195237   PMID:16341674   PMID:16344560   PMID:16442856   PMID:16492928   PMID:16543152   PMID:16609022   PMID:17054425  
PMID:17081983   PMID:17108146   PMID:17203305   PMID:17242407   PMID:17353931   PMID:17474147   PMID:17492771   PMID:18029348   PMID:18238776   PMID:18313385   PMID:18440984   PMID:18524993  
PMID:18676680   PMID:19064572   PMID:19170196   PMID:19305408   PMID:19336415   PMID:19339270   PMID:19536092   PMID:19573080   PMID:19589734   PMID:19625176   PMID:19661089   PMID:19692168  
PMID:19773279   PMID:20009512   PMID:20226869   PMID:20227374   PMID:20379614   PMID:20403997   PMID:20453000   PMID:20496165   PMID:20518483   PMID:20522537   PMID:20574454   PMID:20644561  
PMID:20731661   PMID:20813000   PMID:20843780   PMID:21282530   PMID:21390132   PMID:21620500   PMID:21816818   PMID:21832049   PMID:21873635   PMID:21878356   PMID:22174317   PMID:22242598  
PMID:22632162   PMID:22658674   PMID:24013086   PMID:24292625   PMID:24332808   PMID:24342190   PMID:24407287   PMID:24457600   PMID:24674627   PMID:24711643   PMID:24837021   PMID:24952745  
PMID:24981860   PMID:25127141   PMID:25281560   PMID:25544563   PMID:25609649   PMID:25665578   PMID:25817347   PMID:25828893   PMID:25921289   PMID:26130724   PMID:26186194   PMID:26344197  
PMID:26449312   PMID:26474068   PMID:26496610   PMID:26549023   PMID:27248496   PMID:27634302   PMID:27637333   PMID:27684187   PMID:28192407   PMID:28330616   PMID:28514442   PMID:28751376  
PMID:28846114   PMID:28977666   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29523818   PMID:29568061   PMID:29632340   PMID:29656893   PMID:29668892   PMID:29676528   PMID:29844126  
PMID:30021884   PMID:30022792   PMID:30120376   PMID:30260704   PMID:30554943   PMID:30585729   PMID:30699358   PMID:30804502   PMID:30833792   PMID:30884312   PMID:30940648   PMID:30948266  
PMID:30994454   PMID:31034940   PMID:31091453   PMID:31182584   PMID:31239290   PMID:31586073   PMID:31630206   PMID:31665637   PMID:31871319   PMID:32416067   PMID:32457219   PMID:32780723  
PMID:32807901   PMID:32971831   PMID:33030583   PMID:33087274   PMID:33111431   PMID:33330937   PMID:33644029   PMID:33855352   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34111398  
PMID:34181949   PMID:34239347   PMID:34349018   PMID:34551306   PMID:34709727   PMID:34732716   PMID:34795231   PMID:34800366   PMID:35013218   PMID:35013556   PMID:35016035   PMID:35140242  
PMID:35235311   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35676659   PMID:35785414   PMID:35831314   PMID:35906200   PMID:35915203   PMID:35944360  
PMID:36089195   PMID:36129980   PMID:36215168   PMID:36217030   PMID:36373674   PMID:36560452   PMID:36625284   PMID:36898370   PMID:36988399   PMID:37689310   PMID:37827155   PMID:38297188  
PMID:38697112   PMID:38777146  


Genomics

Comparative Map Data
LIG3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381734,980,512 - 35,010,872 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1734,980,512 - 35,009,743 (+)EnsemblGRCh38hg38GRCh38
GRCh371733,307,531 - 33,336,762 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361730,331,651 - 30,356,201 (+)NCBINCBI36Build 36hg18NCBI36
Build 341730,331,696 - 30,355,936NCBI
Celera1730,217,714 - 30,242,284 (+)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1729,493,447 - 29,518,012 (+)NCBIHuRef
CHM1_11733,371,911 - 33,396,481 (+)NCBICHM1_1
T2T-CHM13v2.01735,928,368 - 35,957,659 (+)NCBIT2T-CHM13v2.0
Lig3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391182,671,977 - 82,695,100 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1182,671,934 - 82,695,100 (+)EnsemblGRCm39 Ensembl
GRCm381182,781,109 - 82,804,274 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1182,781,108 - 82,804,274 (+)EnsemblGRCm38mm10GRCm38
MGSCv371182,594,637 - 82,617,776 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361182,597,330 - 82,620,469 (+)NCBIMGSCv36mm8
Celera1192,400,612 - 92,423,646 (+)NCBICelera
Cytogenetic Map11CNCBI
cM Map1150.23NCBI
Lig3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81068,215,371 - 68,238,705 (+)NCBIGRCr8
mRatBN7.21067,717,808 - 67,741,141 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1067,717,812 - 67,798,414 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1072,337,877 - 72,361,210 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01071,843,252 - 71,866,586 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01067,305,075 - 67,328,397 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01070,134,734 - 70,158,051 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1070,134,729 - 70,158,055 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01069,765,441 - 69,788,758 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41071,000,287 - 71,021,398 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11071,013,909 - 71,035,020 (+)NCBI
Celera1066,662,184 - 66,683,295 (+)NCBICelera
Cytogenetic Map10q26NCBI
Lig3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554819,696,054 - 9,715,637 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554819,696,050 - 9,716,154 (+)NCBIChiLan1.0ChiLan1.0
LIG3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21929,456,509 - 29,487,762 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11731,342,056 - 31,367,159 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01721,776,483 - 21,805,706 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11722,073,487 - 22,097,754 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1722,074,046 - 22,095,220 (-)Ensemblpanpan1.1panPan2
LIG3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1938,346,275 - 38,366,634 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl938,346,199 - 38,366,193 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha937,569,261 - 37,590,027 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0939,158,185 - 39,178,954 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl939,155,826 - 39,178,934 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1937,940,790 - 37,961,563 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0938,226,708 - 38,247,470 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0938,314,196 - 38,334,891 (-)NCBIUU_Cfam_GSD_1.0
Lig3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560237,328,228 - 37,350,583 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936538206,839 - 226,441 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936538206,179 - 228,487 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LIG3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1240,153,397 - 40,183,622 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11240,153,105 - 40,205,077 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21241,714,491 - 41,773,847 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LIG3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11628,487,953 - 28,511,945 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1628,490,434 - 28,511,130 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660751,476,469 - 1,500,221 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lig3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248752,872,357 - 2,893,967 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248752,871,944 - 2,907,757 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LIG3
99 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_013975.4(LIG3):c.1440T>C (p.Pro480=) single nucleotide variant Cardiac arrhythmia [RCV001841537] Chr17:34992677 [GRCh38]
Chr17:33319696 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.3(LIG3):c.791G>A (p.Arg264Gln) single nucleotide variant Malignant melanoma [RCV000063185] Chr17:34989565 [GRCh38]
Chr17:33316584 [GRCh37]
Chr17:30340697 [NCBI36]
Chr17:17q12		 not provided
NM_013975.3(LIG3):c.1271C>G (p.Ser424Ter) single nucleotide variant Malignant melanoma [RCV000063186] Chr17:34992020 [GRCh38]
Chr17:33319039 [GRCh37]
Chr17:30343152 [NCBI36]
Chr17:17q12		 not provided
NM_013975.3(LIG3):c.1582C>A (p.Arg528Ser) single nucleotide variant Malignant melanoma [RCV000063187] Chr17:34994402 [GRCh38]
Chr17:33321421 [GRCh37]
Chr17:30345534 [NCBI36]
Chr17:17q12		 not provided
NM_013975.4(LIG3):c.3008G>A (p.Arg1003Gln) single nucleotide variant Inborn genetic diseases [RCV002532358]|not provided [RCV000588199] Chr17:35004484 [GRCh38]
Chr17:33331503 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_013975.4(LIG3):c.2472A>G (p.Gln824=) single nucleotide variant not provided [RCV000588282] Chr17:35001397 [GRCh38]
Chr17:33328416 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.67C>T (p.Leu23=) single nucleotide variant not provided [RCV000586629] Chr17:34983072 [GRCh38]
Chr17:33310091 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.1835A>T (p.Glu612Val) single nucleotide variant not provided [RCV000587168] Chr17:34997749 [GRCh38]
Chr17:33324768 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.2701G>A (p.Ala901Thr) single nucleotide variant not provided [RCV000589063] Chr17:35002694 [GRCh38]
Chr17:33329713 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.1208+3G>T single nucleotide variant not provided [RCV000589342] Chr17:34991840 [GRCh38]
Chr17:33318859 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.2211G>A (p.Thr737=) single nucleotide variant not specified [RCV000589228] Chr17:34999404 [GRCh38]
Chr17:33326423 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_013975.4(LIG3):c.3023C>T (p.Pro1008Leu) single nucleotide variant not provided [RCV000590178] Chr17:35004499 [GRCh38]
Chr17:33331518 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1690A>C (p.Ile564Leu) single nucleotide variant not provided [RCV000590747] Chr17:34996142 [GRCh38]
Chr17:33323161 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_013975.4(LIG3):c.2096A>G (p.Tyr699Cys) single nucleotide variant Inborn genetic diseases [RCV003299102] Chr17:34998710 [GRCh38]
Chr17:33325729 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2367C>T (p.Phe789=) single nucleotide variant not provided [RCV000586314] Chr17:35001292 [GRCh38]
Chr17:33328311 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.2961G>A (p.Ala987=) single nucleotide variant not provided [RCV000586190] Chr17:35004437 [GRCh38]
Chr17:33331456 [GRCh37]
Chr17:17q12		 benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q12(chr17:32654402-33353332)x3 copy number gain not provided [RCV000683919] Chr17:32654402..33353332 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:32351496-34455576)x1 copy number loss not provided [RCV000683918] Chr17:32351496..34455576 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_013975.4(LIG3):c.2774A>C (p.Asp925Ala) single nucleotide variant Inborn genetic diseases [RCV003245457] Chr17:35002767 [GRCh38]
Chr17:33329786 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:33073917-33863479)x1 copy number loss not provided [RCV001006894] Chr17:33073917..33863479 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1028G>A (p.Arg343Gln) single nucleotide variant not specified [RCV001280665] Chr17:34991101 [GRCh38]
Chr17:33318120 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.2200G>C (p.Asp734His) single nucleotide variant not specified [RCV000780385] Chr17:34999393 [GRCh38]
Chr17:33326412 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.471C>A (p.Ile157=) single nucleotide variant not provided [RCV000886034]|not specified [RCV000780386] Chr17:34983476 [GRCh38]
Chr17:33310495 [GRCh37]
Chr17:17q12		 benign|likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787392] Chr17:31889285..33557612 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.452G>A (p.Arg151Gln) single nucleotide variant not specified [RCV001201186] Chr17:34983457 [GRCh38]
Chr17:33310476 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.1332G>A (p.Ser444=) single nucleotide variant not specified [RCV001193984] Chr17:34992569 [GRCh38]
Chr17:33319588 [GRCh37]
Chr17:17q12		 benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
NM_013975.4(LIG3):c.1256A>G (p.Asp419Gly) single nucleotide variant Inborn genetic diseases [RCV003274510] Chr17:34992005 [GRCh38]
Chr17:33319024 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1193A>G (p.Gln398Arg) single nucleotide variant not specified [RCV001175431] Chr17:34991822 [GRCh38]
Chr17:33318841 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2825G>A (p.Arg942Gln) single nucleotide variant Inborn genetic diseases [RCV003259141]|not specified [RCV001193981] Chr17:35004301 [GRCh38]
Chr17:33331320 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_013975.4(LIG3):c.2393A>C (p.Asp798Ala) single nucleotide variant Inborn genetic diseases [RCV003249963] Chr17:35001318 [GRCh38]
Chr17:33328337 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2593G>A (p.Val865Met) single nucleotide variant Inborn genetic diseases [RCV003291629] Chr17:35002023 [GRCh38]
Chr17:33329042 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1841G>A (p.Arg614Gln) single nucleotide variant Inborn genetic diseases [RCV003251949] Chr17:34997755 [GRCh38]
Chr17:33324774 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.382T>G (p.Ser128Ala) single nucleotide variant not specified [RCV001553678] Chr17:34983387 [GRCh38]
Chr17:33310406 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.670C>T (p.Arg224Trp) single nucleotide variant not provided [RCV000963510]|not specified [RCV001779095] Chr17:34986110 [GRCh38]
Chr17:33313129 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_013975.4(LIG3):c.1383G>A (p.Val461=) single nucleotide variant not provided [RCV000887505]|not specified [RCV003479238] Chr17:34992620 [GRCh38]
Chr17:33319639 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.2660C>T (p.Ser887Phe) single nucleotide variant not specified [RCV001193982] Chr17:35002090 [GRCh38]
Chr17:33329109 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.2796+6G>A single nucleotide variant not provided [RCV000890371] Chr17:35002795 [GRCh38]
Chr17:33329814 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.842C>G (p.Thr281Arg) single nucleotide variant Inborn genetic diseases [RCV003276531] Chr17:34989616 [GRCh38]
Chr17:33316635 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1555A>G (p.Asn519Asp) single nucleotide variant not specified [RCV001193983] Chr17:34994375 [GRCh38]
Chr17:33321394 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1990-17_1990-14del deletion not specified [RCV001201229] Chr17:34998586..34998589 [GRCh38]
Chr17:33325605..33325608 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.2331+19G>A single nucleotide variant not provided [RCV004710262]|not specified [RCV001255561] Chr17:34999875 [GRCh38]
Chr17:33326894 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.2712G>C (p.Val904=) single nucleotide variant not specified [RCV001251359] Chr17:35002705 [GRCh38]
Chr17:33329724 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.2316C>T (p.Ile772=) single nucleotide variant not specified [RCV001255463] Chr17:34999841 [GRCh38]
Chr17:33326860 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.722C>T (p.Ser241Leu) single nucleotide variant not provided [RCV004706081]|not specified [RCV001269250] Chr17:34989496 [GRCh38]
Chr17:33316515 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.446G>A (p.Arg149Gln) single nucleotide variant not specified [RCV001582381] Chr17:34983451 [GRCh38]
Chr17:33310470 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:33312303-33365515)x1 copy number loss not provided [RCV001827825] Chr17:33312303..33365515 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1611G>C (p.Lys537Asn) single nucleotide variant Mitochondrial DNA depletion syndrome 20 (mngie type) [RCV001847480] Chr17:34994431 [GRCh38]
Chr17:33321450 [GRCh37]
Chr17:17q12		 pathogenic
NM_013975.4(LIG3):c.799C>T (p.Arg267Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 20 (mngie type) [RCV001847483]|not provided [RCV004774471] Chr17:34989573 [GRCh38]
Chr17:33316592 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_013975.4(LIG3):c.1826C>T (p.Pro609Leu) single nucleotide variant Mitochondrial DNA depletion syndrome 20 (mngie type) [RCV001847484] Chr17:34997740 [GRCh38]
Chr17:33324759 [GRCh37]
Chr17:17q12		 pathogenic
NM_013975.4(LIG3):c.2796+20C>T single nucleotide variant not specified [RCV001825076] Chr17:35002809 [GRCh38]
Chr17:33329828 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2890G>C (p.Gly964Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 20 (mngie type) [RCV001847481] Chr17:35004366 [GRCh38]
Chr17:33331385 [GRCh37]
Chr17:17q12		 pathogenic
NM_013975.4(LIG3):c.2431C>T (p.Arg811Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 20 (mngie type) [RCV001847485] Chr17:35001356 [GRCh38]
Chr17:33328375 [GRCh37]
Chr17:17q12		 pathogenic
NM_013975.4(LIG3):c.86G>A (p.Trp29Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 20 (mngie type) [RCV001847487] Chr17:34983091 [GRCh38]
Chr17:33310110 [GRCh37]
Chr17:17q12		 pathogenic
NM_013975.4(LIG3):c.1611+209G>A single nucleotide variant Mitochondrial DNA depletion syndrome 20 (mngie type) [RCV001847486] Chr17:34994640 [GRCh38]
Chr17:33321659 [GRCh37]
Chr17:17q12		 pathogenic
NM_013975.4(LIG3):c.2996G>A (p.Cys999Tyr) single nucleotide variant Mitochondrial DNA depletion syndrome 20 (mngie type) [RCV001847482] Chr17:35004472 [GRCh38]
Chr17:33331491 [GRCh37]
Chr17:17q12		 pathogenic
NM_013975.4(LIG3):c.2426G>A (p.Arg809Gln) single nucleotide variant not provided [RCV001935265] Chr17:35001351 [GRCh38]
Chr17:33328370 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1041+11C>T single nucleotide variant not provided [RCV004710428]|not specified [RCV002223062] Chr17:34991125 [GRCh38]
Chr17:33318144 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.2860C>A (p.Arg954Ser) single nucleotide variant not specified [RCV003123480] Chr17:35004336 [GRCh38]
Chr17:33331355 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.123A>G (p.Thr41=) single nucleotide variant not specified [RCV003231039] Chr17:34983128 [GRCh38]
Chr17:33310147 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.2653_2654del (p.Leu884_Ser885insTer) deletion Mitochondrial DNA depletion syndrome 20 (mngie type) [RCV002273039] Chr17:35002082..35002083 [GRCh38]
Chr17:33329101..33329102 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_013975.4(LIG3):c.744T>A (p.Ser248Arg) single nucleotide variant not specified [RCV003231040] Chr17:34989518 [GRCh38]
Chr17:33316537 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2403C>T (p.Ser801=) single nucleotide variant not specified [RCV004700143] Chr17:35001328 [GRCh38]
Chr17:33328347 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.1859A>G (p.Asn620Ser) single nucleotide variant not specified [RCV002308707] Chr17:34997773 [GRCh38]
Chr17:33324792 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2114-3dup duplication Inborn genetic diseases [RCV002902876]|LIG3-related disorder [RCV003900902] Chr17:34999301..34999302 [GRCh38]
Chr17:33326320..33326321 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_013975.4(LIG3):c.1604C>T (p.Pro535Leu) single nucleotide variant Inborn genetic diseases [RCV002751886] Chr17:34994424 [GRCh38]
Chr17:33321443 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.790C>T (p.Arg264Trp) single nucleotide variant Inborn genetic diseases [RCV003001465] Chr17:34989564 [GRCh38]
Chr17:33316583 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.643G>A (p.Ala215Thr) single nucleotide variant Inborn genetic diseases [RCV002694074] Chr17:34986083 [GRCh38]
Chr17:33313102 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.671G>T (p.Arg224Leu) single nucleotide variant Inborn genetic diseases [RCV002757752] Chr17:34986111 [GRCh38]
Chr17:33313130 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1073T>C (p.Phe358Ser) single nucleotide variant not specified [RCV002510437] Chr17:34991702 [GRCh38]
Chr17:33318721 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.353G>A (p.Arg118Gln) single nucleotide variant Inborn genetic diseases [RCV002929694] Chr17:34983358 [GRCh38]
Chr17:33310377 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1148G>A (p.Arg383Gln) single nucleotide variant Inborn genetic diseases [RCV002984821] Chr17:34991777 [GRCh38]
Chr17:33318796 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2780C>T (p.Thr927Met) single nucleotide variant Inborn genetic diseases [RCV002957071] Chr17:35002773 [GRCh38]
Chr17:33329792 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2731_2732del (p.Lys911fs) deletion Inborn genetic diseases [RCV002874813] Chr17:35002723..35002724 [GRCh38]
Chr17:33329742..33329743 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.548-1G>C single nucleotide variant Inborn genetic diseases [RCV002697037] Chr17:34985987 [GRCh38]
Chr17:33313006 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1856A>C (p.Asp619Ala) single nucleotide variant Inborn genetic diseases [RCV002960994] Chr17:34997770 [GRCh38]
Chr17:33324789 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.698C>G (p.Pro233Arg) single nucleotide variant Inborn genetic diseases [RCV002960312] Chr17:34989472 [GRCh38]
Chr17:33316491 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.275G>A (p.Arg92Gln) single nucleotide variant Inborn genetic diseases [RCV002900898] Chr17:34983280 [GRCh38]
Chr17:33310299 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1984G>A (p.Val662Met) single nucleotide variant Inborn genetic diseases [RCV002702318] Chr17:34998291 [GRCh38]
Chr17:33325310 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.70T>G (p.Phe24Val) single nucleotide variant Inborn genetic diseases [RCV002656622] Chr17:34983075 [GRCh38]
Chr17:33310094 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2242G>T (p.Val748Leu) single nucleotide variant Inborn genetic diseases [RCV002722426] Chr17:34999435 [GRCh38]
Chr17:33326454 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.881C>T (p.Ser294Leu) single nucleotide variant Inborn genetic diseases [RCV002677879] Chr17:34989655 [GRCh38]
Chr17:33316674 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.302G>A (p.Gly101Asp) single nucleotide variant Inborn genetic diseases [RCV003196416] Chr17:34983307 [GRCh38]
Chr17:33310326 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988) copy number loss Chromosome 17q12 deletion syndrome [RCV003319594] Chr17:30572862..35843988 [GRCh37]
Chr17:17q11.2-12		 pathogenic
NM_013975.4(LIG3):c.1741A>C (p.Lys581Gln) single nucleotide variant Inborn genetic diseases [RCV003308579] Chr17:34996193 [GRCh38]
Chr17:33323212 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.74G>A (p.Arg25Gln) single nucleotide variant not specified [RCV003324168] Chr17:34983079 [GRCh38]
Chr17:33310098 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.967G>A (p.Asp323Asn) single nucleotide variant Mitochondrial DNA depletion syndrome 20 (mngie type) [RCV003340877] Chr17:34991040 [GRCh38]
Chr17:33318059 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2332-19G>C single nucleotide variant not specified [RCV003331984] Chr17:35001238 [GRCh38]
Chr17:33328257 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2931C>T (p.His977=) single nucleotide variant not specified [RCV003331982] Chr17:35004407 [GRCh38]
Chr17:33331426 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.1824-13C>T single nucleotide variant not specified [RCV003331983] Chr17:34997725 [GRCh38]
Chr17:33324744 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.864C>A (p.Asp288Glu) single nucleotide variant Inborn genetic diseases [RCV003366596] Chr17:34989638 [GRCh38]
Chr17:33316657 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2727C>G (p.Ala909=) single nucleotide variant not specified [RCV003404834] Chr17:35002720 [GRCh38]
Chr17:33329739 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.2133C>T (p.Phe711=) single nucleotide variant not specified [RCV003404833] Chr17:34999326 [GRCh38]
Chr17:33326345 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.1857C>T (p.Asp619=) single nucleotide variant not specified [RCV003489560] Chr17:34997771 [GRCh38]
Chr17:33324790 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.2815A>C (p.Thr939Pro) single nucleotide variant Inborn genetic diseases [RCV004415082] Chr17:35004291 [GRCh38]
Chr17:33331310 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1372G>A (p.Ala458Thr) single nucleotide variant Inborn genetic diseases [RCV004415076] Chr17:34992609 [GRCh38]
Chr17:33319628 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1509G>A (p.Met503Ile) single nucleotide variant Inborn genetic diseases [RCV004415077] Chr17:34994329 [GRCh38]
Chr17:33321348 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1873C>G (p.Pro625Ala) single nucleotide variant Inborn genetic diseases [RCV004415078] Chr17:34997787 [GRCh38]
Chr17:33324806 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:33316754-33890206)x1 copy number loss not specified [RCV003987224] Chr17:33316754..33890206 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2173A>G (p.Thr725Ala) single nucleotide variant Inborn genetic diseases [RCV004415080] Chr17:34999366 [GRCh38]
Chr17:33326385 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1515T>G (p.Ser505=) single nucleotide variant not provided [RCV003884959] Chr17:34994335 [GRCh38]
Chr17:33321354 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.2809A>G (p.Ile937Val) single nucleotide variant LIG3-related disorder [RCV003966958] Chr17:35004285 [GRCh38]
Chr17:33331304 [GRCh37]
Chr17:17q12		 likely benign
NM_013975.4(LIG3):c.1166A>G (p.Lys389Arg) single nucleotide variant not specified [RCV003988340] Chr17:34991795 [GRCh38]
Chr17:33318814 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1942C>T (p.Arg648Trp) single nucleotide variant Inborn genetic diseases [RCV004415079] Chr17:34998249 [GRCh38]
Chr17:33325268 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1286+6T>C single nucleotide variant not provided [RCV003884163] Chr17:34992041 [GRCh38]
Chr17:33319060 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.2265C>A (p.Ser755Arg) single nucleotide variant Inborn genetic diseases [RCV004415081] Chr17:34999790 [GRCh38]
Chr17:33326809 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1097C>G (p.Pro366Arg) single nucleotide variant Inborn genetic diseases [RCV004415075] Chr17:34991726 [GRCh38]
Chr17:33318745 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.283G>A (p.Val95Met) single nucleotide variant Inborn genetic diseases [RCV004415083] Chr17:34983288 [GRCh38]
Chr17:33310307 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1912-3C>T single nucleotide variant not provided [RCV004585334] Chr17:34998216 [GRCh38]
Chr17:33325235 [GRCh37]
Chr17:17q12		 benign
NC_000017.10:g.(?_32908096)_(33513578_?)dup duplication not provided [RCV004581454] Chr17:32908096..33513578 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1756C>G (p.Gln586Glu) single nucleotide variant Inborn genetic diseases [RCV004642485] Chr17:34996586 [GRCh38]
Chr17:33323605 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.901G>A (p.Gly301Ser) single nucleotide variant Inborn genetic diseases [RCV004642486] Chr17:34990974 [GRCh38]
Chr17:33317993 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1018G>A (p.Asp340Asn) single nucleotide variant Inborn genetic diseases [RCV004642488] Chr17:34991091 [GRCh38]
Chr17:33318110 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.713A>T (p.Glu238Val) single nucleotide variant Inborn genetic diseases [RCV004642491] Chr17:34989487 [GRCh38]
Chr17:33316506 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1960T>C (p.Leu654=) single nucleotide variant not specified [RCV004587884] Chr17:34998267 [GRCh38]
Chr17:33325286 [GRCh37]
Chr17:17q12		 benign
NM_013975.4(LIG3):c.976A>T (p.Ile326Phe) single nucleotide variant Inborn genetic diseases [RCV004642490] Chr17:34991049 [GRCh38]
Chr17:33318068 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.677T>C (p.Phe226Ser) single nucleotide variant Inborn genetic diseases [RCV004642489] Chr17:34986117 [GRCh38]
Chr17:33313136 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1129G>A (p.Val377Met) single nucleotide variant LIG3-related disorder [RCV004757731] Chr17:34991758 [GRCh38]
Chr17:33318777 [GRCh37]
Chr17:17q12		 uncertain significance
NM_013975.4(LIG3):c.1293C>T (p.Asp431=) single nucleotide variant not specified [RCV004700144] Chr17:34992530 [GRCh38]
Chr17:33319549 [GRCh37]
Chr17:17q12		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3897
Count of miRNA genes:1115
Interacting mature miRNAs:1414
Transcripts:ENST00000262327, ENST00000378526, ENST00000585370, ENST00000585740, ENST00000585941, ENST00000586058, ENST00000586119, ENST00000586407, ENST00000586435, ENST00000588109, ENST00000588713, ENST00000590181, ENST00000590630, ENST00000592244, ENST00000592690, ENST00000593099
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407021410GWAS670386_HQT interval QTL GWAS670386 (human)6e-12QT intervalQT interval (CMO:0000235)173499736334997364Human
407313477GWAS962453_HJT interval QTL GWAS962453 (human)7e-48JT intervalheart electrical conduction measurement (CMO:0000230)173499736334997364Human
407304677GWAS953653_Hpulse pressure measurement QTL GWAS953653 (human)8e-11pulse pressure measurementpulse pressure (CMO:0000292)173498671034986711Human
407380555GWAS1029531_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1029531 (human)2e-10diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)173498671034986711Human
406917218GWAS566194_HTPE interval measurement QTL GWAS566194 (human)2e-08TPE interval measurement173499736334997364Human
407042401GWAS691377_HQT interval QTL GWAS691377 (human)6e-25QT intervalQT interval (CMO:0000235)173500455635004557Human
406914087GWAS563063_Hrestless legs syndrome QTL GWAS563063 (human)0.0000001restless legs syndrome173499736334997364Human
407150765GWAS799741_HQT interval QTL GWAS799741 (human)2e-21QT intervalQT interval (CMO:0000235)173499736334997364Human
407380195GWAS1029171_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1029171 (human)2e-09diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)173498671034986711Human
407149206GWAS798182_Helectrocardiography QTL GWAS798182 (human)5e-09electrocardiography173498671034986711Human
407015121GWAS664097_HQT interval QTL GWAS664097 (human)3e-13QT intervalQT interval (CMO:0000235)173499736334997364Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
406940916GWAS589892_Hadolescent idiopathic scoliosis QTL GWAS589892 (human)8e-09adolescent idiopathic scoliosis173499022934990230Human
406975963GWAS624939_Hmacrophage inflammatory protein 1b measurement QTL GWAS624939 (human)3e-11macrophage inflammatory protein 1b measurement173498122734981228Human
407325496GWAS974472_HQT interval QTL GWAS974472 (human)4e-56QT intervalQT interval (CMO:0000235)173500455635004557Human

Markers in Region
G67577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,325,192 - 33,325,456UniSTSGRCh37
Build 361730,349,305 - 30,349,569RGDNCBI36
Celera1730,235,388 - 30,235,652RGD
Cytogenetic Map17q11.2-q12UniSTS
HuRef1729,511,120 - 29,511,384UniSTS
G67578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,326,679 - 33,326,983UniSTSGRCh37
Build 361730,350,792 - 30,351,096RGDNCBI36
Celera1730,236,875 - 30,237,179RGD
Cytogenetic Map17q11.2-q12UniSTS
HuRef1729,512,607 - 29,512,911UniSTS
WI-11743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,324,005 - 33,324,154UniSTSGRCh37
Build 361730,348,118 - 30,348,267RGDNCBI36
Celera1730,234,201 - 30,234,350RGD
Cytogenetic Map17q11.2-q12UniSTS
HuRef1729,509,933 - 29,510,082UniSTS
GeneMap99-GB4 RH Map17296.75UniSTS
Whitehead-RH Map17302.3UniSTS
G29180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,331,639 - 33,331,773UniSTSGRCh37
Build 361730,355,752 - 30,355,886RGDNCBI36
Celera1730,241,835 - 30,241,969RGD
Cytogenetic Map17q11.2-q12UniSTS
HuRef1729,517,563 - 29,517,697UniSTS
LIG3_3259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,331,356 - 33,331,969UniSTSGRCh37
Build 361730,355,469 - 30,356,082RGDNCBI36
Celera1730,241,552 - 30,242,165RGD
HuRef1729,517,280 - 29,517,893UniSTS
D10Chm170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,310,295 - 33,310,518UniSTSGRCh37
Celera1730,220,491 - 30,220,714UniSTS
HuRef1729,496,224 - 29,496,447UniSTS
MARC_3929-3930:996679185:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,325,626 - 33,326,360UniSTSGRCh37
Celera1730,235,822 - 30,236,556UniSTS
HuRef1729,511,554 - 29,512,288UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1950 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA872458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB462562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB470625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB470626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF491645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW166526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG470103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM467239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM726768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM759573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB100562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262327   ⟹   ENSP00000262327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,980,546 - 35,003,172 (+)Ensembl
Ensembl Acc Id: ENST00000378526   ⟹   ENSP00000367787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,980,512 - 35,009,743 (+)Ensembl
Ensembl Acc Id: ENST00000585370   ⟹   ENSP00000465288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,997,756 - 34,998,671 (+)Ensembl
Ensembl Acc Id: ENST00000585740   ⟹   ENSP00000467757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,980,559 - 34,992,607 (+)Ensembl
Ensembl Acc Id: ENST00000585941   ⟹   ENSP00000468479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,980,512 - 34,994,429 (+)Ensembl
Ensembl Acc Id: ENST00000586058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,994,187 - 34,998,254 (+)Ensembl
Ensembl Acc Id: ENST00000586119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,997,718 - 35,001,293 (+)Ensembl
Ensembl Acc Id: ENST00000586407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,980,640 - 34,989,540 (+)Ensembl
Ensembl Acc Id: ENST00000586435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,986,094 - 34,991,314 (+)Ensembl
Ensembl Acc Id: ENST00000588109   ⟹   ENSP00000466278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,983,452 - 34,991,065 (+)Ensembl
Ensembl Acc Id: ENST00000588713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,994,275 - 34,996,373 (+)Ensembl
Ensembl Acc Id: ENST00000590181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,980,577 - 34,989,880 (+)Ensembl
Ensembl Acc Id: ENST00000590630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,991,637 - 34,997,825 (+)Ensembl
Ensembl Acc Id: ENST00000592244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,002,834 - 35,004,372 (+)Ensembl
Ensembl Acc Id: ENST00000592690   ⟹   ENSP00000467063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,980,558 - 34,989,657 (+)Ensembl
Ensembl Acc Id: ENST00000593099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,997,034 - 35,004,804 (+)Ensembl
RefSeq Acc Id: NM_002311   ⟹   NP_002302
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381734,980,512 - 35,003,153 (+)NCBI
GRCh371733,307,517 - 33,332,088 (+)ENTREZGENE
Build 361730,331,651 - 30,354,281 (+)NCBI Archive
HuRef1729,493,447 - 29,518,012 (+)ENTREZGENE
CHM1_11733,371,911 - 33,394,584 (+)NCBI
T2T-CHM13v2.01735,928,427 - 35,951,069 (+)NCBI
Sequence:
RefSeq Acc Id: NM_013975   ⟹   NP_039269
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381734,980,512 - 35,009,743 (+)NCBI
GRCh371733,307,517 - 33,332,088 (+)ENTREZGENE
Build 361730,331,651 - 30,356,201 (+)NCBI Archive
HuRef1729,493,447 - 29,518,012 (+)ENTREZGENE
CHM1_11733,371,911 - 33,396,481 (+)NCBI
T2T-CHM13v2.01735,928,427 - 35,957,659 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257970   ⟹   XP_005258027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381734,980,512 - 35,009,743 (+)NCBI
GRCh371733,307,517 - 33,332,088 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721896   ⟹   XP_006721959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381734,980,512 - 35,003,153 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024624   ⟹   XP_016880113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381734,980,802 - 35,009,743 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047435968   ⟹   XP_047291924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381734,980,512 - 35,010,872 (+)NCBI
RefSeq Acc Id: XM_047435969   ⟹   XP_047291925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381734,980,512 - 35,010,872 (+)NCBI
RefSeq Acc Id: XM_047435970   ⟹   XP_047291926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381734,981,468 - 35,010,872 (+)NCBI
RefSeq Acc Id: XM_047435971   ⟹   XP_047291927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381734,980,512 - 35,010,872 (+)NCBI
RefSeq Acc Id: XM_047435972   ⟹   XP_047291928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381734,980,512 - 35,009,743 (+)NCBI
RefSeq Acc Id: XM_054316051   ⟹   XP_054172026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01735,928,419 - 35,957,516 (+)NCBI
RefSeq Acc Id: XM_054316052   ⟹   XP_054172027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01735,928,427 - 35,957,516 (+)NCBI
RefSeq Acc Id: XM_054316053   ⟹   XP_054172028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01735,929,382 - 35,957,516 (+)NCBI
RefSeq Acc Id: XM_054316054   ⟹   XP_054172029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01735,928,368 - 35,957,659 (+)NCBI
RefSeq Acc Id: XM_054316055   ⟹   XP_054172030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01735,928,716 - 35,957,659 (+)NCBI
RefSeq Acc Id: XM_054316056   ⟹   XP_054172031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01735,928,420 - 35,957,516 (+)NCBI
RefSeq Acc Id: XM_054316057   ⟹   XP_054172032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01735,928,418 - 35,951,069 (+)NCBI
RefSeq Acc Id: XM_054316058   ⟹   XP_054172033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01735,928,427 - 35,957,659 (+)NCBI
Protein Sequences
Protein RefSeqs NP_002302 (Get FASTA)   NCBI Sequence Viewer  
  NP_039269 (Get FASTA)   NCBI Sequence Viewer  
  XP_005258027 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721959 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880113 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291924 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291925 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291926 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291927 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291928 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172026 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172027 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172028 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172029 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172030 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172031 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172032 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172033 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA85022 (Get FASTA)   NCBI Sequence Viewer  
  AAH09026 (Get FASTA)   NCBI Sequence Viewer  
  AAH68005 (Get FASTA)   NCBI Sequence Viewer  
  AAL91592 (Get FASTA)   NCBI Sequence Viewer  
  ADP89974 (Get FASTA)   NCBI Sequence Viewer  
  ADP89975 (Get FASTA)   NCBI Sequence Viewer  
  ADP89976 (Get FASTA)   NCBI Sequence Viewer  
  ADP89977 (Get FASTA)   NCBI Sequence Viewer  
  ADP89978 (Get FASTA)   NCBI Sequence Viewer  
  ADP89979 (Get FASTA)   NCBI Sequence Viewer  
  ADP89980 (Get FASTA)   NCBI Sequence Viewer  
  ADP89981 (Get FASTA)   NCBI Sequence Viewer  
  ADP89982 (Get FASTA)   NCBI Sequence Viewer  
  ADP89983 (Get FASTA)   NCBI Sequence Viewer  
  ADP89984 (Get FASTA)   NCBI Sequence Viewer  
  ADP89985 (Get FASTA)   NCBI Sequence Viewer  
  ADP89986 (Get FASTA)   NCBI Sequence Viewer  
  ADP89987 (Get FASTA)   NCBI Sequence Viewer  
  ADP89988 (Get FASTA)   NCBI Sequence Viewer  
  ADP89989 (Get FASTA)   NCBI Sequence Viewer  
  ADP89990 (Get FASTA)   NCBI Sequence Viewer  
  ADP89991 (Get FASTA)   NCBI Sequence Viewer  
  ADP89992 (Get FASTA)   NCBI Sequence Viewer  
  ADP89993 (Get FASTA)   NCBI Sequence Viewer  
  ADP89994 (Get FASTA)   NCBI Sequence Viewer  
  ADP89995 (Get FASTA)   NCBI Sequence Viewer  
  ADP89996 (Get FASTA)   NCBI Sequence Viewer  
  ADP89997 (Get FASTA)   NCBI Sequence Viewer  
  ADP89998 (Get FASTA)   NCBI Sequence Viewer  
  ADP89999 (Get FASTA)   NCBI Sequence Viewer  
  ADP90000 (Get FASTA)   NCBI Sequence Viewer  
  ADP90001 (Get FASTA)   NCBI Sequence Viewer  
  ADP90002 (Get FASTA)   NCBI Sequence Viewer  
  ADP90003 (Get FASTA)   NCBI Sequence Viewer  
  ADP90004 (Get FASTA)   NCBI Sequence Viewer  
  ADP90005 (Get FASTA)   NCBI Sequence Viewer  
  ADP90006 (Get FASTA)   NCBI Sequence Viewer  
  ADP90007 (Get FASTA)   NCBI Sequence Viewer  
  ADP90008 (Get FASTA)   NCBI Sequence Viewer  
  ADP90009 (Get FASTA)   NCBI Sequence Viewer  
  ADP90010 (Get FASTA)   NCBI Sequence Viewer  
  ADP90011 (Get FASTA)   NCBI Sequence Viewer  
  ADP90012 (Get FASTA)   NCBI Sequence Viewer  
  ADP90013 (Get FASTA)   NCBI Sequence Viewer  
  ADP90014 (Get FASTA)   NCBI Sequence Viewer  
  ADP90015 (Get FASTA)   NCBI Sequence Viewer  
  ADP90016 (Get FASTA)   NCBI Sequence Viewer  
  ADP90017 (Get FASTA)   NCBI Sequence Viewer  
  ADP90018 (Get FASTA)   NCBI Sequence Viewer  
  ADP90019 (Get FASTA)   NCBI Sequence Viewer  
  ADP90020 (Get FASTA)   NCBI Sequence Viewer  
  ADP90021 (Get FASTA)   NCBI Sequence Viewer  
  ADP90022 (Get FASTA)   NCBI Sequence Viewer  
  ADP90023 (Get FASTA)   NCBI Sequence Viewer  
  ADP90024 (Get FASTA)   NCBI Sequence Viewer  
  ADP90025 (Get FASTA)   NCBI Sequence Viewer  
  ADP90026 (Get FASTA)   NCBI Sequence Viewer  
  ADP90027 (Get FASTA)   NCBI Sequence Viewer  
  ADP90028 (Get FASTA)   NCBI Sequence Viewer  
  ADP90029 (Get FASTA)   NCBI Sequence Viewer  
  ADP90030 (Get FASTA)   NCBI Sequence Viewer  
  ADP90031 (Get FASTA)   NCBI Sequence Viewer  
  ADP90032 (Get FASTA)   NCBI Sequence Viewer  
  ADP90033 (Get FASTA)   NCBI Sequence Viewer  
  ADP90034 (Get FASTA)   NCBI Sequence Viewer  
  ADP90035 (Get FASTA)   NCBI Sequence Viewer  
  ADP90036 (Get FASTA)   NCBI Sequence Viewer  
  ADP90037 (Get FASTA)   NCBI Sequence Viewer  
  ADP90038 (Get FASTA)   NCBI Sequence Viewer  
  ADP90039 (Get FASTA)   NCBI Sequence Viewer  
  ADP90040 (Get FASTA)   NCBI Sequence Viewer  
  ADP90041 (Get FASTA)   NCBI Sequence Viewer  
  ADP90042 (Get FASTA)   NCBI Sequence Viewer  
  ADP90043 (Get FASTA)   NCBI Sequence Viewer  
  ADP90044 (Get FASTA)   NCBI Sequence Viewer  
  ADP90045 (Get FASTA)   NCBI Sequence Viewer  
  ADP90046 (Get FASTA)   NCBI Sequence Viewer  
  ADP90047 (Get FASTA)   NCBI Sequence Viewer  
  ADP90048 (Get FASTA)   NCBI Sequence Viewer  
  ADP90049 (Get FASTA)   NCBI Sequence Viewer  
  ADP90050 (Get FASTA)   NCBI Sequence Viewer  
  ADP90051 (Get FASTA)   NCBI Sequence Viewer  
  ADP90052 (Get FASTA)   NCBI Sequence Viewer  
  ADP90053 (Get FASTA)   NCBI Sequence Viewer  
  BAH13269 (Get FASTA)   NCBI Sequence Viewer  
  BAH59593 (Get FASTA)   NCBI Sequence Viewer  
  CAA59230 (Get FASTA)   NCBI Sequence Viewer  
  EAW80197 (Get FASTA)   NCBI Sequence Viewer  
  EAW80198 (Get FASTA)   NCBI Sequence Viewer  
  EAW80199 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262327
  ENSP00000262327.4
  ENSP00000367787
  ENSP00000367787.3
  ENSP00000465288.1
  ENSP00000466278.1
  ENSP00000467063.1
  ENSP00000467757.1
  ENSP00000468479.1
GenBank Protein P49916 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_039269   ⟸   NM_013975
- Peptide Label: isoform alpha precursor
- UniProtKB: Q16714 (UniProtKB/Swiss-Prot),   E5KLB6 (UniProtKB/Swiss-Prot),   E5KLB5 (UniProtKB/Swiss-Prot),   Q6NVK3 (UniProtKB/Swiss-Prot),   P49916 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002302   ⟸   NM_002311
- Peptide Label: isoform beta precursor
- UniProtKB: P49916 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005258027   ⟸   XM_005257970
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006721959   ⟸   XM_006721896
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016880113   ⟸   XM_017024624
- Peptide Label: isoform X4
- UniProtKB: Q16714 (UniProtKB/Swiss-Prot),   E5KLB6 (UniProtKB/Swiss-Prot),   E5KLB5 (UniProtKB/Swiss-Prot),   Q6NVK3 (UniProtKB/Swiss-Prot),   P49916 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000467757   ⟸   ENST00000585740
Ensembl Acc Id: ENSP00000468479   ⟸   ENST00000585941
Ensembl Acc Id: ENSP00000465288   ⟸   ENST00000585370
Ensembl Acc Id: ENSP00000466278   ⟸   ENST00000588109
Ensembl Acc Id: ENSP00000367787   ⟸   ENST00000378526
Ensembl Acc Id: ENSP00000262327   ⟸   ENST00000262327
Ensembl Acc Id: ENSP00000467063   ⟸   ENST00000592690
RefSeq Acc Id: XP_047291925   ⟸   XM_047435969
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047291924   ⟸   XM_047435968
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047291927   ⟸   XM_047435971
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047291928   ⟸   XM_047435972
- Peptide Label: isoform X7
- UniProtKB: B7Z6I3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047291926   ⟸   XM_047435970
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054172029   ⟸   XM_054316054
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054172032   ⟸   XM_054316057
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054172026   ⟸   XM_054316051
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172031   ⟸   XM_054316056
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054172033   ⟸   XM_054316058
- Peptide Label: isoform X7
- UniProtKB: B7Z6I3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172027   ⟸   XM_054316052
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054172030   ⟸   XM_054316055
- Peptide Label: isoform X4
- UniProtKB: Q6NVK3 (UniProtKB/Swiss-Prot),   Q16714 (UniProtKB/Swiss-Prot),   P49916 (UniProtKB/Swiss-Prot),   E5KLB6 (UniProtKB/Swiss-Prot),   E5KLB5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054172028   ⟸   XM_054316053
- Peptide Label: isoform X2
Protein Domains
ATP-dependent DNA ligase family profile   BRCT   DNA ligase ATP-dependent N-terminal   PARP-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P49916-F1-model_v2 AlphaFold P49916 1-1009 view protein structure

Promoters
RGD ID:6794271
Promoter ID:HG_KWN:25763
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002311,   NM_013975,   UC002HII.2,   UC010CTH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361730,330,971 - 30,332,112 (+)MPROMDB
RGD ID:7234597
Promoter ID:EPDNEW_H23044
Type:initiation region
Name:LIG3_1
Description:DNA ligase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381734,980,512 - 34,980,572EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6600 AgrOrtholog
COSMIC LIG3 COSMIC
Ensembl Genes ENSG00000005156 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262327 ENTREZGENE
  ENST00000262327.9 UniProtKB/Swiss-Prot
  ENST00000378526 ENTREZGENE
  ENST00000378526.9 UniProtKB/Swiss-Prot
  ENST00000585370.1 UniProtKB/TrEMBL
  ENST00000585740.5 UniProtKB/TrEMBL
  ENST00000585941.5 UniProtKB/TrEMBL
  ENST00000588109.5 UniProtKB/TrEMBL
  ENST00000592690.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.3260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.1490.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.1740.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.10190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA ligase/mRNA capping enzyme UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000005156 GTEx
HGNC ID HGNC:6600 ENTREZGENE
Human Proteome Map LIG3 Human Proteome Map
InterPro ATP-dep_DNA_ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRCT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRCT_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_ATP-dep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_ATP-dep_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_ATP-dep_cent UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_ATP-dep_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_ATP-dep_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIG3_BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PARP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PARP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3980 UniProtKB/Swiss-Prot
NCBI Gene 3980 ENTREZGENE
OMIM 600940 OMIM
PANTHER DNA LIGASE 1/3 FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA LIGASE 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DNA_ligase_A_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_A_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_A_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIG3_BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-PARP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30374 PharmGKB
PROSITE BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_LIGASE_A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_LIGASE_A2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_LIGASE_A3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PARP_ZN_FINGER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PARP_ZN_FINGER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-PARP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP DNA ligase/mRNA capping enzyme, catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF117018 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z6I3 ENTREZGENE, UniProtKB/TrEMBL
  C4B7Q3_HUMAN UniProtKB/TrEMBL
  DNLI3_HUMAN UniProtKB/Swiss-Prot
  E5KLB5 ENTREZGENE
  E5KLB6 ENTREZGENE
  K7EJR4_HUMAN UniProtKB/TrEMBL
  K7ELY6_HUMAN UniProtKB/TrEMBL
  K7ENR9_HUMAN UniProtKB/TrEMBL
  K7EQB6_HUMAN UniProtKB/TrEMBL
  K7ERZ5_HUMAN UniProtKB/TrEMBL
  P49916 ENTREZGENE
  Q16714 ENTREZGENE
  Q6NVK3 ENTREZGENE
UniProt Secondary E5KLB5 UniProtKB/Swiss-Prot
  E5KLB6 UniProtKB/Swiss-Prot
  Q16714 UniProtKB/Swiss-Prot
  Q6NVK3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 LIG3  DNA ligase 3  LIG3  ligase III, DNA, ATP-dependent  Symbol and/or name change 5135510 APPROVED
2016-03-18 LIG3  ligase III, DNA, ATP-dependent  LIG2  ligase II, DNA, ATP-dependent  Data merged from RGD:1353192 737654 PROVISIONAL