PMS1 (PMS1 homolog 1, mismatch repair system component) - Rat Genome Database

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Gene: PMS1 (PMS1 homolog 1, mismatch repair system component) Homo sapiens
Analyze
Symbol: PMS1
Name: PMS1 homolog 1, mismatch repair system component
RGD ID: 1349068
HGNC Page HGNC:9121
Description: Enables enzyme binding activity. Predicted to be involved in mismatch repair. Located in nucleus. Implicated in Lynch syndrome; dermatomyositis; pancreatic ductal carcinoma; and polymyositis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp781M0253; DNA mismatch repair protein PMS1; FLJ98259; HNPCC3; hPMS1; human homolog of yeast mutL; mismatch repair gene PMSL1; MLH2; PMS1 postmeiotic segregation increased 1; PMS1 protein homolog 1; PMSL1; rhabdomyosarcoma antigen MU-RMS-40.10B; rhabdomyosarcoma antigen MU-RMS-40.10E
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: MAMTS44_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382189,784,450 - 189,877,629 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2189,784,085 - 189,877,629 (+)EnsemblGRCh38hg38GRCh38
GRCh372190,649,176 - 190,742,355 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362190,357,355 - 190,450,600 (+)NCBINCBI36Build 36hg18NCBI36
Build 342190,474,615 - 190,567,860NCBI
Celera2184,243,739 - 184,337,288 (+)NCBICelera
Cytogenetic Map2q32.2NCBI
HuRef2182,508,462 - 182,602,272 (+)NCBIHuRef
CHM1_12190,654,694 - 190,748,309 (+)NCBICHM1_1
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroperoxycyclophosphamide  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
asbestos  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cypermethrin  (ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
ethyl methanesulfonate  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
mercury atom  (ISO)
mercury(0)  (ISO)
methotrexate  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
O-methyleugenol  (ISO)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
succimer  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
Abdominal pain  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal speech pattern  (IAGP)
Adenoma sebaceum  (IAGP)
Amaurosis fugax  (IAGP)
Anxiety  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Basal cell carcinoma  (IAGP)
Benign neoplasm of the central nervous system  (IAGP)
Breast carcinoma  (IAGP)
Cardiac diverticulum  (IAGP)
Colon cancer  (IAGP)
Constipation  (IAGP)
Death in early adulthood  (IAGP)
Death in infancy  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Disturbed sensory perception  (IAGP)
Dysarthria  (IAGP)
Dysgraphia  (IAGP)
Dyskinesia  (IAGP)
Endometrial carcinoma  (IAGP)
Fatigue  (IAGP)
Flexion contracture  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Glioblastoma multiforme  (IAGP)
Hallucinations  (IAGP)
Hematological neoplasm  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hereditary nonpolyposis colorectal carcinoma  (IAGP)
Hypertonia  (IAGP)
Hypotonia  (IAGP)
Increased intracranial pressure  (IAGP)
Intestinal polyposis  (IAGP)
Irritability  (IAGP)
Laryngeal carcinoma  (IAGP)
Malabsorption  (IAGP)
Malignant genitourinary tract tumor  (IAGP)
Memory impairment  (IAGP)
Migraine  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the liver  (IAGP)
Neoplasm of the pancreas  (IAGP)
Neoplasm of the rectum  (IAGP)
Neoplasm of the skeletal system  (IAGP)
Neoplasm of the skin  (IAGP)
Neoplasm of the stomach  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Neuroblastoma  (IAGP)
Ovarian neoplasm  (IAGP)
Pancreatic adenocarcinoma  (IAGP)
Paresthesia  (IAGP)
Pituitary adenoma  (IAGP)
Renal neoplasm  (IAGP)
Salivary gland neoplasm  (IAGP)
Seizure  (IAGP)
Urinary tract neoplasm  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (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 mismatch repair defects: role in colorectal carcinogenesis. Jacob S and Praz F, Biochimie. 2002 Jan;84(1):27-47.
3. Mechanisms and functions of DNA mismatch repair. Li GM Cell Res. 2008 Jan;18(1):85-98.
4. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nicolaides NC, etal., Nature. 1994 Sep 1;371(6492):75-80.
5. Immune responses to DNA mismatch repair enzymes hMSH2 and hPMS1 in patients with pancreatic cancer, dermatomyositis and polymyositis. Okada T, etal., Int J Cancer. 2005 Oct 10;116(6):925-33.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7980603   PMID:8128251   PMID:8666228   PMID:8889548   PMID:9500994   PMID:10459502   PMID:10480359   PMID:10748159   PMID:10828585   PMID:11292842   PMID:11329013   PMID:11809883  
PMID:11999575   PMID:12477932   PMID:12799449   PMID:15226443   PMID:16136382   PMID:16344560   PMID:16774946   PMID:17148452   PMID:17452356   PMID:17494052   PMID:18364438   PMID:18484899  
PMID:18676680   PMID:18723338   PMID:19012493   PMID:19064572   PMID:19115210   PMID:19170196   PMID:19237606   PMID:19430479   PMID:19609347   PMID:19625176   PMID:19692168   PMID:20004149  
PMID:20301390   PMID:20414254   PMID:20496165   PMID:20603015   PMID:20603073   PMID:21873635   PMID:21906983   PMID:22589738   PMID:23251661   PMID:23608172   PMID:24204293   PMID:24816145  
PMID:25162662   PMID:25502805   PMID:25659891   PMID:25921289   PMID:26186194   PMID:26300262   PMID:26496610   PMID:26638075   PMID:26870752   PMID:27880917   PMID:28514442   PMID:30590005  
PMID:30686591   PMID:31478661   PMID:31536960   PMID:32296183   PMID:32807901   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34591612   PMID:34795231   PMID:34807001  
PMID:34852986   PMID:35439318   PMID:35563538   PMID:35906200   PMID:36089195   PMID:36373674   PMID:36652389   PMID:37059091   PMID:37314216   PMID:37689310   PMID:37827155   PMID:38777146  


Genomics

Comparative Map Data
PMS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382189,784,450 - 189,877,629 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2189,784,085 - 189,877,629 (+)EnsemblGRCh38hg38GRCh38
GRCh372190,649,176 - 190,742,355 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362190,357,355 - 190,450,600 (+)NCBINCBI36Build 36hg18NCBI36
Build 342190,474,615 - 190,567,860NCBI
Celera2184,243,739 - 184,337,288 (+)NCBICelera
Cytogenetic Map2q32.2NCBI
HuRef2182,508,462 - 182,602,272 (+)NCBIHuRef
CHM1_12190,654,694 - 190,748,309 (+)NCBICHM1_1
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBIT2T-CHM13v2.0
Pms1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39153,225,794 - 53,336,190 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl153,228,346 - 53,336,177 (-)EnsemblGRCm39 Ensembl
GRCm38153,189,187 - 53,297,031 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl153,189,187 - 53,297,018 (-)EnsemblGRCm38mm10GRCm38
MGSCv37153,246,031 - 53,353,840 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36153,133,732 - 53,241,541 (-)NCBIMGSCv36mm8
Celera153,728,483 - 53,836,401 (-)NCBICelera
Cytogenetic Map1C1.1NCBI
cM Map126.99NCBI
Pms1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8955,721,393 - 55,832,225 (+)NCBIGRCr8
mRatBN7.2948,229,403 - 48,340,237 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl948,253,410 - 48,340,237 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx956,789,682 - 56,875,049 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0961,912,501 - 61,997,868 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0960,208,491 - 60,293,858 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0953,120,656 - 53,206,520 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl953,120,656 - 53,206,516 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0952,784,772 - 52,871,014 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4945,203,344 - 45,292,624 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1945,204,757 - 45,294,034 (+)NCBI
Celera945,919,538 - 46,005,758 (+)NCBICelera
Cytogenetic Map9q22NCBI
Pms1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554039,022,078 - 9,100,442 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554039,021,488 - 9,100,442 (-)NCBIChiLan1.0ChiLan1.0
PMS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21392,475,954 - 92,566,780 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B92,490,937 - 92,581,763 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B77,090,215 - 77,180,724 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B195,010,233 - 195,100,492 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B195,010,233 - 195,100,492 (+)Ensemblpanpan1.1panPan2
PMS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.137502,752 - 609,640 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl37502,747 - 790,904 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha371,475,758 - 1,583,050 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.037395,761 - 503,686 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl37395,722 - 503,685 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.137406,588 - 513,890 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.037375,065 - 482,126 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.037403,027 - 510,344 (+)NCBIUU_Cfam_GSD_1.0
Pms1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303148,621,339 - 148,718,585 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365068,119,494 - 8,197,768 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365068,118,816 - 8,197,040 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PMS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1594,351,630 - 94,476,506 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11594,351,603 - 94,476,505 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215105,412,685 - 105,513,299 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PMS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11075,305,129 - 75,392,193 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1075,311,887 - 75,392,590 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040124,084,971 - 124,175,531 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PMS1
105 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000534.5(PMS1):c.174_175delinsTA (p.Glu59Lys) indel not specified [RCV000121814] Chr2:189795810..189795811 [GRCh38]
Chr2:190660536..190660537 [GRCh37]
Chr2:2q32.2		 not provided
NM_000534.5(PMS1):c.492dup (p.Cys165fs) duplication not specified [RCV000121817] Chr2:189818083..189818084 [GRCh38]
Chr2:190682809..190682810 [GRCh37]
Chr2:2q32.2		 not provided
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1		 pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
NM_000534.5(PMS1):c.287C>G (p.Ala96Gly) single nucleotide variant Ovarian cancer [RCV003153397]|not specified [RCV000121815] Chr2:189795923 [GRCh38]
Chr2:190660649 [GRCh37]
Chr2:2q32.2		 likely pathogenic|not provided
NM_000534.5(PMS1):c.329C>G (p.Thr110Arg) single nucleotide variant not specified [RCV000121816] Chr2:189805665 [GRCh38]
Chr2:190670391 [GRCh37]
Chr2:2q32.2		 not provided
NM_000534.5(PMS1):c.575A>G (p.His192Arg) single nucleotide variant not specified [RCV000121818] Chr2:189818173 [GRCh38]
Chr2:190682899 [GRCh37]
Chr2:2q32.2		 not provided
NM_000534.5(PMS1):c.605G>A (p.Arg202Lys) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV000625760]|not provided [RCV001357429]|not specified [RCV000121819] Chr2:189843986 [GRCh38]
Chr2:190708712 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance|not provided
NM_000534.5(PMS1):c.2417C>G (p.Thr806Ser) single nucleotide variant not provided [RCV000968997]|not specified [RCV000121820] Chr2:189867873 [GRCh38]
Chr2:190732599 [GRCh37]
Chr2:2q32.2		 benign|not provided
NM_000534.5(PMS1):c.2470C>A (p.Pro824Thr) single nucleotide variant not specified [RCV000121821] Chr2:189867926 [GRCh38]
Chr2:190732652 [GRCh37]
Chr2:2q32.2		 not provided
NM_000534.5(PMS1):c.2377T>C (p.Tyr793His) single nucleotide variant not provided [RCV000886431]|not specified [RCV000121822] Chr2:189867833 [GRCh38]
Chr2:190732559 [GRCh37]
Chr2:2q32.2		 benign|likely benign|not provided
NM_000534.5(PMS1):c.2377T>G (p.Tyr793Asp) single nucleotide variant not specified [RCV000121823] Chr2:189867833 [GRCh38]
Chr2:190732559 [GRCh37]
Chr2:2q32.2		 not provided
NM_000534.5(PMS1):c.1643A>G (p.Lys548Arg) single nucleotide variant Lynch syndrome 1 [RCV002498577]|not provided [RCV000886430]|not specified [RCV000121824] Chr2:189854915 [GRCh38]
Chr2:190719641 [GRCh37]
Chr2:2q32.2		 benign|likely benign|not provided
NM_000534.5(PMS1):c.1001C>T (p.Thr334Met) single nucleotide variant not specified [RCV000121825] Chr2:189854273 [GRCh38]
Chr2:190718999 [GRCh37]
Chr2:2q32.2		 uncertain significance|not provided
NM_000534.5(PMS1):c.1436G>C (p.Gly479Ala) single nucleotide variant not specified [RCV000121826] Chr2:189854708 [GRCh38]
Chr2:190719434 [GRCh37]
Chr2:2q32.2		 not provided
NM_000534.5(PMS1):c.1501G>A (p.Gly501Arg) single nucleotide variant not provided [RCV000886429]|not specified [RCV000121827] Chr2:189854773 [GRCh38]
Chr2:190719499 [GRCh37]
Chr2:2q32.2		 benign|likely benign|not provided
NM_000534.5(PMS1):c.1609G>A (p.Glu537Lys) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV000625761]|not provided [RCV001354675]|not specified [RCV000121828] Chr2:189854881 [GRCh38]
Chr2:190719607 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance|not provided
NM_000534.5(PMS1):c.1744G>A (p.Val582Ile) single nucleotide variant not provided [RCV000724169]|not specified [RCV000121829] Chr2:189855016 [GRCh38]
Chr2:190719742 [GRCh37]
Chr2:2q32.2		 uncertain significance|not provided
NM_000534.5(PMS1):c.1181T>C (p.Met394Thr) single nucleotide variant not provided [RCV000886398]|not specified [RCV000121830] Chr2:189854453 [GRCh38]
Chr2:190719179 [GRCh37]
Chr2:2q32.2		 benign|likely benign|not provided
NM_000534.5(PMS1):c.1895A>G (p.Asn632Ser) single nucleotide variant not provided [RCV000889619]|not specified [RCV000121831] Chr2:189863781 [GRCh38]
Chr2:190728507 [GRCh37]
Chr2:2q32.2		 likely benign|not provided
NM_000534.5(PMS1):c.1888C>T (p.Arg630Ter) single nucleotide variant PMS1-related breast cancer [RCV003460857]|not provided [RCV001355189]|not specified [RCV000121832] Chr2:189863774 [GRCh38]
Chr2:190728500 [GRCh37]
Chr2:2q32.2		 uncertain significance|not provided
NM_000534.5(PMS1):c.2219C>T (p.Ser740Phe) single nucleotide variant not specified [RCV000121833] Chr2:189864105 [GRCh38]
Chr2:190728831 [GRCh37]
Chr2:2q32.2		 not provided
NM_000534.5(PMS1):c.2058T>G (p.Ile686Met) single nucleotide variant not specified [RCV000121834] Chr2:189863944 [GRCh38]
Chr2:190728670 [GRCh37]
Chr2:2q32.2		 not provided
NM_000534.5(PMS1):c.418+78G>A single nucleotide variant PMS1-related disorder [RCV003945063]|not specified [RCV000119876] Chr2:189805832 [GRCh38]
Chr2:190670558 [GRCh37]
Chr2:2q32.2		 likely benign|not provided
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1		 pathogenic
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 copy number loss See cases [RCV000138253] Chr2:181758701..192015392 [GRCh38]
Chr2:182623428..192880118 [GRCh37]
Chr2:182331673..192588363 [NCBI36]
Chr2:2q31.3-32.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2(chr2:189828954-189853926)x1 copy number loss See cases [RCV000141070] Chr2:189828954..189853926 [GRCh38]
Chr2:190693680..190718652 [GRCh37]
Chr2:190401925..190426897 [NCBI36]
Chr2:2q32.2		 pathogenic
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3		 pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
NM_000534.5(PMS1):c.171C>T (p.Asn57=) single nucleotide variant Lynch syndrome [RCV000382858] Chr2:189795807 [GRCh38]
Chr2:190660533 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.345T>C (p.Asp115=) single nucleotide variant not provided [RCV000966837] Chr2:189805681 [GRCh38]
Chr2:190670407 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_016467.5(ORMDL1):c.-118+144C>T single nucleotide variant Lynch syndrome [RCV000343120] Chr2:189784125 [GRCh38]
Chr2:190648851 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.4(PMS1):c.-274T>A single nucleotide variant Lynch syndrome [RCV000350162] Chr2:189784340 [GRCh38]
Chr2:190649066 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.4(PMS1):c.-266G>C single nucleotide variant Lynch syndrome [RCV000395899] Chr2:189784348 [GRCh38]
Chr2:190649074 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1586G>A (p.Ser529Asn) single nucleotide variant not provided [RCV000898237] Chr2:189854858 [GRCh38]
Chr2:190719584 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000534.5(PMS1):c.1201A>G (p.Lys401Glu) single nucleotide variant Lynch syndrome [RCV000396336] Chr2:189854473 [GRCh38]
Chr2:190719199 [GRCh37]
Chr2:2q32.2		 uncertain significance
NC_000002.12:g.189784312C>T single nucleotide variant not provided [RCV001714334] Chr2:189784312 [GRCh38]
Chr2:190649038 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000534.4(PMS1):c.823-14A>G single nucleotide variant Lynch syndrome [RCV000406143] Chr2:189853925 [GRCh38]
Chr2:190718651 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.4(PMS1):c.2474-7C>A single nucleotide variant Lynch syndrome [RCV000365971] Chr2:189873489 [GRCh38]
Chr2:190738215 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.4(PMS1):c.-232G>T single nucleotide variant Lynch syndrome [RCV000369982] Chr2:189784382 [GRCh38]
Chr2:190649108 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.4(PMS1):c.-193T>C single nucleotide variant Lynch syndrome [RCV000261342] Chr2:189784421 [GRCh38]
Chr2:190649147 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.-100G>T single nucleotide variant not provided [RCV001597662] Chr2:189784514 [GRCh38]
Chr2:190649240 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000534.5(PMS1):c.-24G>C single nucleotide variant not provided [RCV001717030] Chr2:189784590 [GRCh38]
Chr2:190649316 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000534.5(PMS1):c.174G>T (p.Gly58=) single nucleotide variant PMS1-related disorder [RCV003957716]|not provided [RCV000879374] Chr2:189795810 [GRCh38]
Chr2:190660536 [GRCh37]
Chr2:2q32.2		 benign|uncertain significance
NM_016467.5(ORMDL1):c.-120C>T single nucleotide variant Lynch syndrome [RCV000289225] Chr2:189784271 [GRCh38]
Chr2:190648997 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000534.5(PMS1):c.401C>T (p.Pro134Leu) single nucleotide variant Lynch syndrome [RCV000294261] Chr2:189805737 [GRCh38]
Chr2:190670463 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.-156G>A single nucleotide variant Lynch syndrome [RCV000297829] Chr2:189784458 [GRCh38]
Chr2:190649184 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1332A>G (p.Val444=) single nucleotide variant Lynch syndrome [RCV000301192] Chr2:189854604 [GRCh38]
Chr2:190719330 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_016467.5(ORMDL1):c.-188G>A single nucleotide variant Lynch syndrome [RCV000309421] Chr2:189784339 [GRCh38]
Chr2:190649065 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.*10T>A single nucleotide variant not provided [RCV001616425] Chr2:189877446 [GRCh38]
Chr2:190742172 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000534.5(PMS1):c.1975G>T (p.Ala659Ser) single nucleotide variant Lynch syndrome [RCV000270174] Chr2:189863861 [GRCh38]
Chr2:190728587 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.-99G>T single nucleotide variant Lynch syndrome [RCV000321477] Chr2:189784515 [GRCh38]
Chr2:190649241 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.141T>C (p.Tyr47=) single nucleotide variant not provided [RCV000956016] Chr2:189795777 [GRCh38]
Chr2:190660503 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000534.5(PMS1):c.315+6G>A single nucleotide variant not provided [RCV001687093] Chr2:189795957 [GRCh38]
Chr2:190660683 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000534.5(PMS1):c.-120G>A single nucleotide variant Lynch syndrome [RCV000357429] Chr2:189784494 [GRCh38]
Chr2:190649220 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_016467.5(ORMDL1):c.-118+136C>T single nucleotide variant Lynch syndrome [RCV000379132] Chr2:189784133 [GRCh38]
Chr2:190648859 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000534.5(PMS1):c.1039G>A (p.Glu347Lys) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374540] Chr2:189854311 [GRCh38]
Chr2:190719037 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.4(PMS1):c.-257C>G single nucleotide variant Lynch syndrome [RCV000315332] Chr2:189784357 [GRCh38]
Chr2:190649083 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.*168G>A single nucleotide variant Lynch syndrome [RCV000330843] Chr2:189877604 [GRCh38]
Chr2:190742330 [GRCh37]
Chr2:2q32.2		 uncertain significance
NC_000002.12:g.189784079G>T single nucleotide variant Lynch syndrome [RCV000372894]|not provided [RCV001540929] Chr2:189784079 [GRCh38]
Chr2:190648805 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000534.5(PMS1):c.-68T>A single nucleotide variant Lynch syndrome [RCV000376047] Chr2:189784546 [GRCh38]
Chr2:190649272 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1974C>T (p.Ser658=) single nucleotide variant Lynch syndrome [RCV000360122] Chr2:189863860 [GRCh38]
Chr2:190728586 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.829C>T (p.Arg277Ter) single nucleotide variant not specified [RCV000579172] Chr2:189853945 [GRCh38]
Chr2:190718671 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_016467.5(ORMDL1):c.-143G>A single nucleotide variant Lynch syndrome [RCV000344164] Chr2:189784294 [GRCh38]
Chr2:190649020 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.2(chr2:190632763-190728606)x1 copy number loss See cases [RCV000448121] Chr2:190632763..190728606 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000534.5(PMS1):c.1030A>G (p.Asn344Asp) single nucleotide variant not specified [RCV004312965] Chr2:189854302 [GRCh38]
Chr2:190719028 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1241G>A (p.Gly414Asp) single nucleotide variant Hereditary nonpolyposis colorectal carcinoma [RCV000626701] Chr2:189854513 [GRCh38]
Chr2:190719239 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.2101T>G (p.Phe701Val) single nucleotide variant not specified [RCV004316516] Chr2:189863987 [GRCh38]
Chr2:190728713 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1798G>A (p.Asp600Asn) single nucleotide variant not specified [RCV004317583] Chr2:189855070 [GRCh38]
Chr2:190719796 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.2303C>T (p.Pro768Leu) single nucleotide variant not specified [RCV004310419] Chr2:189864189 [GRCh38]
Chr2:190728915 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.79G>C (p.Glu27Gln) single nucleotide variant Polyp of colon [RCV000735969]|not provided [RCV004692215] Chr2:189791888 [GRCh38]
Chr2:190656614 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.985C>G (p.Leu329Val) single nucleotide variant Polyp of colon [RCV000735970] Chr2:189854257 [GRCh38]
Chr2:190718983 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 copy number loss not provided [RCV000740789] Chr2:189490490..200615496 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
GRCh37/hg19 2q32.2(chr2:190601058-190689771)x3 copy number gain not provided [RCV000740820] Chr2:190601058..190689771 [GRCh37]
Chr2:2q32.2		 benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_000534.5(PMS1):c.175G>A (p.Glu59Lys) single nucleotide variant PMS1-related disorder [RCV003955790]|not provided [RCV000879375] Chr2:189795811 [GRCh38]
Chr2:190660537 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000534.5(PMS1):c.2661A>G (p.Gln887=) single nucleotide variant not provided [RCV000916429] Chr2:189877298 [GRCh38]
Chr2:190742024 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.2283T>C (p.Leu761=) single nucleotide variant not provided [RCV000905235]|not specified [RCV001818781] Chr2:189864169 [GRCh38]
Chr2:190728895 [GRCh37]
Chr2:2q32.2		 benign|likely benign
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3		 pathogenic
NM_000534.5(PMS1):c.316-8T>C single nucleotide variant not provided [RCV000896193] Chr2:189805644 [GRCh38]
Chr2:190670370 [GRCh37]
Chr2:2q32.2		 likely benign
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NC_000002.11:g.(?_189839216)_(192012929_?)dup duplication Immunodeficiency 31B [RCV003107719]|not provided [RCV003113217] Chr2:189839216..192012929 [GRCh37]
Chr2:2q32.2-32.3		 uncertain significance|no classifications from unflagged records
NM_000534.5(PMS1):c.822+125T>C single nucleotide variant not provided [RCV001620182] Chr2:189852902 [GRCh38]
Chr2:190717628 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.-21+74G>A single nucleotide variant not provided [RCV001694242] Chr2:189784667 [GRCh38]
Chr2:190649393 [GRCh37]
Chr2:2q32.2		 benign
NC_000002.12:g.189783989C>A single nucleotide variant not provided [RCV001718123] Chr2:189783989 [GRCh38]
Chr2:190648715 [GRCh37]
Chr2:2q32.2		 benign
NC_000002.12:g.189783950A>G single nucleotide variant not provided [RCV001650578] Chr2:189783950 [GRCh38]
Chr2:190648676 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.-21+76T>C single nucleotide variant not provided [RCV001714430] Chr2:189784669 [GRCh38]
Chr2:190649395 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.2106T>A (p.Ser702=) single nucleotide variant not provided [RCV000908511] Chr2:189863992 [GRCh38]
Chr2:190728718 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000534.5(PMS1):c.1018T>C (p.Leu340=) single nucleotide variant not provided [RCV000913249] Chr2:189854290 [GRCh38]
Chr2:190719016 [GRCh37]
Chr2:2q32.2		 likely benign
GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1 copy number loss not provided [RCV002472632] Chr2:187152754..199960525 [GRCh37]
Chr2:2q32.1-33.1		 pathogenic
NM_000534.5(PMS1):c.418+70dup duplication not provided [RCV001616381] Chr2:189805813..189805814 [GRCh38]
Chr2:190670539..190670540 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.419-111G>C single nucleotide variant not provided [RCV001691845] Chr2:189817906 [GRCh38]
Chr2:190682632 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.700-23C>A single nucleotide variant not provided [RCV001691870] Chr2:189852632 [GRCh38]
Chr2:190717358 [GRCh37]
Chr2:2q32.2		 benign
NC_000002.12:g.189783978G>C single nucleotide variant not provided [RCV001652108] Chr2:189783978 [GRCh38]
Chr2:190648704 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.440G>A (p.Arg147Lys) single nucleotide variant Lynch syndrome 1 [RCV001196978] Chr2:189818038 [GRCh38]
Chr2:190682764 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3 copy number gain not provided [RCV001258567] Chr2:188294864..197731939 [GRCh37]
Chr2:2q32.1-33.1		 likely pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV001255693] Chr2:190345272..200212289 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_000534.5(PMS1):c.2766del (p.His923fs) deletion Colorectal cancer [RCV001293840] Chr2:189877398 [GRCh38]
Chr2:190742124 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000534.5(PMS1):c.500A>G (p.Asp167Gly) single nucleotide variant not provided [RCV001356322] Chr2:189818098 [GRCh38]
Chr2:190682824 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1075G>A (p.Val359Ile) single nucleotide variant not provided [RCV001357071] Chr2:189854347 [GRCh38]
Chr2:190719073 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.419-92A>G single nucleotide variant not provided [RCV001540125] Chr2:189817925 [GRCh38]
Chr2:190682651 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.582+49_582+52dup duplication not provided [RCV001673782] Chr2:189818226..189818227 [GRCh38]
Chr2:190682952..190682953 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.1220T>G (p.Leu407Ter) single nucleotide variant not specified [RCV001817951] Chr2:189854492 [GRCh38]
Chr2:190719218 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.224C>T (p.Thr75Ile) single nucleotide variant not provided [RCV003438876]|not specified [RCV001818091] Chr2:189795860 [GRCh38]
Chr2:190660586 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1072A>G (p.Ile358Val) single nucleotide variant not specified [RCV001819175] Chr2:189854344 [GRCh38]
Chr2:190719070 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.2146G>A (p.Val716Ile) single nucleotide variant not specified [RCV001822391] Chr2:189864032 [GRCh38]
Chr2:190728758 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.2612G>A (p.Arg871His) single nucleotide variant not specified [RCV001820372] Chr2:189873634 [GRCh38]
Chr2:190738360 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.*14AGA[1] microsatellite not specified [RCV001820627] Chr2:189877449..189877451 [GRCh38]
Chr2:190742175..190742177 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.928T>G (p.Leu310Val) single nucleotide variant not specified [RCV001822449] Chr2:189854044 [GRCh38]
Chr2:190718770 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
NM_000534.5(PMS1):c.587T>C (p.Val196Ala) single nucleotide variant not specified [RCV004156285] Chr2:189843968 [GRCh38]
Chr2:190708694 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1603A>G (p.Ile535Val) single nucleotide variant Ovarian cancer [RCV003154661] Chr2:189854875 [GRCh38]
Chr2:190719601 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.2338G>A (p.Glu780Lys) single nucleotide variant Ovarian cancer [RCV003154647] Chr2:189864224 [GRCh38]
Chr2:190728950 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.2780A>G (p.Tyr927Cys) single nucleotide variant Ovarian cancer [RCV003154798] Chr2:189877417 [GRCh38]
Chr2:190742143 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000534.5(PMS1):c.2788G>C (p.Glu930Gln) single nucleotide variant not specified [RCV004147040] Chr2:189877425 [GRCh38]
Chr2:190742151 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.2665C>G (p.Pro889Ala) single nucleotide variant not specified [RCV004139399] Chr2:189877302 [GRCh38]
Chr2:190742028 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.2430T>G (p.Asp810Glu) single nucleotide variant not specified [RCV004124719] Chr2:189867886 [GRCh38]
Chr2:190732612 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.661A>G (p.Asn221Asp) single nucleotide variant not specified [RCV004118294] Chr2:189844042 [GRCh38]
Chr2:190708768 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.2195T>C (p.Phe732Ser) single nucleotide variant not specified [RCV004108112] Chr2:189864081 [GRCh38]
Chr2:190728807 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.2099C>T (p.Pro700Leu) single nucleotide variant not specified [RCV004105710] Chr2:189863985 [GRCh38]
Chr2:190728711 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1334C>T (p.Ser445Leu) single nucleotide variant not specified [RCV004126175] Chr2:189854606 [GRCh38]
Chr2:190719332 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1466A>T (p.Asn489Ile) single nucleotide variant not specified [RCV004167392] Chr2:189854738 [GRCh38]
Chr2:190719464 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.868C>T (p.Arg290Cys) single nucleotide variant not specified [RCV004197722] Chr2:189853984 [GRCh38]
Chr2:190718710 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1357T>A (p.Tyr453Asn) single nucleotide variant not specified [RCV004159547] Chr2:189854629 [GRCh38]
Chr2:190719355 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.2230G>A (p.Val744Ile) single nucleotide variant Ovarian cancer [RCV003154664] Chr2:189864116 [GRCh38]
Chr2:190728842 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.1145A>C (p.Asn382Thr) single nucleotide variant Ovarian cancer [RCV003154668] Chr2:189854417 [GRCh38]
Chr2:190719143 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.677A>C (p.Gln226Pro) single nucleotide variant Ovarian cancer [RCV003154667] Chr2:189844058 [GRCh38]
Chr2:190708784 [GRCh37]
Chr2:2q32.2		 benign
NM_000534.5(PMS1):c.1427A>G (p.Asp476Gly) single nucleotide variant Lynch syndrome 1 [RCV004577035]|Ovarian cancer [RCV003154670] Chr2:189854699 [GRCh38]
Chr2:190719425 [GRCh37]
Chr2:2q32.2		 benign|uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_000534.5(PMS1):c.1258del (p.His420fs) deletion not provided [RCV003330193] Chr2:189854530 [GRCh38]
Chr2:190719256 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.793C>T (p.Arg265Ter) single nucleotide variant not provided [RCV003330262] Chr2:189852748 [GRCh38]
Chr2:190717474 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.507A>G (p.Ile169Met) single nucleotide variant not specified [RCV004359918] Chr2:189818105 [GRCh38]
Chr2:190682831 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1162A>C (p.Ile388Leu) single nucleotide variant not specified [RCV004358081] Chr2:189854434 [GRCh38]
Chr2:190719160 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1352C>T (p.Thr451Met) single nucleotide variant not specified [RCV004336245] Chr2:189854624 [GRCh38]
Chr2:190719350 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1952G>A (p.Arg651Lys) single nucleotide variant not provided [RCV003488291] Chr2:189863838 [GRCh38]
Chr2:190728564 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.606_607del (p.Arg202fs) microsatellite not provided [RCV003488292] Chr2:189843985..189843986 [GRCh38]
Chr2:190708711..190708712 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.2434C>T (p.Arg812Cys) single nucleotide variant PMS1-related breast cancer [RCV003463311] Chr2:189867890 [GRCh38]
Chr2:190732616 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1804A>G (p.Thr602Ala) single nucleotide variant not specified [RCV004509658] Chr2:189855076 [GRCh38]
Chr2:190719802 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.2299C>G (p.Leu767Val) single nucleotide variant not specified [RCV004509659] Chr2:189864185 [GRCh38]
Chr2:190728911 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.418+70del deletion PMS1-related disorder [RCV003979520] Chr2:189805814 [GRCh38]
Chr2:190670540 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000534.5(PMS1):c.2746G>T (p.Val916Phe) single nucleotide variant not specified [RCV004509662] Chr2:189877383 [GRCh38]
Chr2:190742109 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.2755C>T (p.Arg919Cys) single nucleotide variant PMS1-related disorder [RCV003927089] Chr2:189877392 [GRCh38]
Chr2:190742118 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000534.5(PMS1):c.2383A>G (p.Met795Val) single nucleotide variant not specified [RCV004509660] Chr2:189867839 [GRCh38]
Chr2:190732565 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1678G>C (p.Val560Leu) single nucleotide variant not specified [RCV004509657] Chr2:189854950 [GRCh38]
Chr2:190719676 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000534.5(PMS1):c.2567C>T (p.Ala856Val) single nucleotide variant not specified [RCV004509661] Chr2:189873589 [GRCh38]
Chr2:190738315 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.570T>G (p.Phe190Leu) single nucleotide variant not specified [RCV004509663] Chr2:189818168 [GRCh38]
Chr2:190682894 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1547A>C (p.Lys516Thr) single nucleotide variant not specified [RCV004651525] Chr2:189854819 [GRCh38]
Chr2:190719545 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.1805C>T (p.Thr602Ile) single nucleotide variant not specified [RCV004651526] Chr2:189855077 [GRCh38]
Chr2:190719803 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000534.5(PMS1):c.434C>G (p.Ala145Gly) single nucleotide variant not specified [RCV004651527] Chr2:189818032 [GRCh38]
Chr2:190682758 [GRCh37]
Chr2:2q32.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2840
Count of miRNA genes:1040
Interacting mature miRNAs:1234
Transcripts:ENST00000342075, ENST00000374826, ENST00000409593, ENST00000409823, ENST00000409985, ENST00000418224, ENST00000420421, ENST00000421722, ENST00000424059, ENST00000424307, ENST00000424766, ENST00000432292, ENST00000441310, ENST00000446877, ENST00000447232, ENST00000447734, ENST00000450931, ENST00000452382, ENST00000483293
Prediction methods:Microtar, Miranda, Rnahybrid
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
407028775GWAS677751_Hsubcutaneous adipose tissue measurement QTL GWAS677751 (human)0.000005subcutaneous adipose tissue measurementabdominal fat morphological measurement (CMO:0000311)2189813819189813820Human
406975047GWAS624023_Hferritin measurement QTL GWAS624023 (human)0.0000002ferritin measurement2189832613189832614Human
407288494GWAS937470_Hgrowth/differentiation factor 8 measurement QTL GWAS937470 (human)7e-18growth/differentiation factor 8 measurement2189849242189849243Human
407041112GWAS690088_Hferritin measurement QTL GWAS690088 (human)2e-10ferritin measurement2189784590189784591Human
407256828GWAS905804_Hgrowth/differentiation factor 11/8 measurement QTL GWAS905804 (human)2e-17growth/differentiation factor 11/8 measurement2189849242189849243Human

Markers in Region
RH93649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,649,718 - 190,649,872UniSTSGRCh37
Build 362190,357,963 - 190,358,117RGDNCBI36
Celera2184,244,646 - 184,244,800RGD
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q32UniSTS
HuRef2182,509,369 - 182,509,523UniSTS
GeneMap99-GB4 RH Map2601.1UniSTS
GDB:581629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,656,513 - 190,656,645UniSTSGRCh37
Build 362190,364,758 - 190,364,890RGDNCBI36
Celera2184,251,446 - 184,251,578RGD
Cytogenetic Map2q31.1UniSTS
HuRef2182,516,170 - 182,516,302UniSTS
G67579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,732,464 - 190,732,825UniSTSGRCh37
Build 362190,440,709 - 190,441,070RGDNCBI36
Celera2184,327,397 - 184,327,758RGD
Cytogenetic Map2q31.1UniSTS
HuRef2182,592,381 - 182,592,742UniSTS
G67581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,670,316 - 190,670,596UniSTSGRCh37
Build 362190,378,561 - 190,378,841RGDNCBI36
Celera2184,265,249 - 184,265,529RGD
Cytogenetic Map2q31.1UniSTS
HuRef2182,529,972 - 182,530,252UniSTS
G67582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,682,629 - 190,683,017UniSTSGRCh37
Build 362190,390,874 - 190,391,262RGDNCBI36
Celera2184,277,562 - 184,277,950RGD
Cytogenetic Map2q31.1UniSTS
HuRef2182,542,285 - 182,542,673UniSTS
G67535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,708,589 - 190,708,893UniSTSGRCh37
Build 362190,416,834 - 190,417,138RGDNCBI36
Celera2184,303,522 - 184,303,826RGD
Cytogenetic Map2q31.1UniSTS
HuRef2182,568,505 - 182,568,809UniSTS
G67580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,728,310 - 190,729,040UniSTSGRCh37
Build 362190,436,555 - 190,437,285RGDNCBI36
Celera2184,323,243 - 184,323,973RGD
Cytogenetic Map2q31.1UniSTS
HuRef2182,588,225 - 182,588,955UniSTS
SGC38239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,649,718 - 190,649,969UniSTSGRCh37
Build 362190,357,963 - 190,358,214RGDNCBI36
Celera2184,244,646 - 184,244,897RGD
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q32UniSTS
HuRef2182,509,369 - 182,509,620UniSTS
GeneMap99-GB4 RH Map2602.12UniSTS
Whitehead-RH Map2931.7UniSTS
D2S2027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,654,649 - 190,654,748UniSTSGRCh37
Build 362190,362,894 - 190,362,993RGDNCBI36
Celera2184,249,582 - 184,249,681RGD
Cytogenetic Map2q31.1UniSTS
HuRef2182,514,305 - 182,514,404UniSTS
Whitehead-RH Map2931.8UniSTS
Whitehead-YAC Contig Map2 UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS


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 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB006462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY267352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC084548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG195153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG214666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG772717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM553209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM677668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM800196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV570894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA206770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA389799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB178424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC347859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC360786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U13695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000342075   ⟹   ENSP00000343888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,489 - 189,877,627 (+)Ensembl
Ensembl Acc Id: ENST00000374826   ⟹   ENSP00000363959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,508 - 189,806,846 (+)Ensembl
Ensembl Acc Id: ENST00000409593   ⟹   ENSP00000387169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,818,127 - 189,877,436 (+)Ensembl
Ensembl Acc Id: ENST00000409823   ⟹   ENSP00000387125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,501 - 189,877,436 (+)Ensembl
Ensembl Acc Id: ENST00000409985   ⟹   ENSP00000386623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,450 - 189,807,054 (+)Ensembl
Ensembl Acc Id: ENST00000418224   ⟹   ENSP00000404492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,085 - 189,877,628 (+)Ensembl
Ensembl Acc Id: ENST00000420421   ⟹   ENSP00000391136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,791,700 - 189,795,857 (+)Ensembl
Ensembl Acc Id: ENST00000421722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,528 - 189,864,114 (+)Ensembl
Ensembl Acc Id: ENST00000424059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,791,810 - 189,873,528 (+)Ensembl
Ensembl Acc Id: ENST00000424307   ⟹   ENSP00000389938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,791,790 - 189,864,202 (+)Ensembl
Ensembl Acc Id: ENST00000424766   ⟹   ENSP00000410082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,543 - 189,818,181 (+)Ensembl
Ensembl Acc Id: ENST00000432292   ⟹   ENSP00000398378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,085 - 189,877,628 (+)Ensembl
Ensembl Acc Id: ENST00000441310   ⟹   ENSP00000406490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,450 - 189,877,629 (+)Ensembl
Ensembl Acc Id: ENST00000446877   ⟹   ENSP00000413837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,489 - 189,791,941 (+)Ensembl
Ensembl Acc Id: ENST00000447232   ⟹   ENSP00000401064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,544 - 189,877,629 (+)Ensembl
Ensembl Acc Id: ENST00000447734   ⟹   ENSP00000411151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,565 - 189,852,762 (+)Ensembl
Ensembl Acc Id: ENST00000450931   ⟹   ENSP00000406225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,513 - 189,877,627 (+)Ensembl
Ensembl Acc Id: ENST00000452382   ⟹   ENSP00000396232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,857,402 - 189,873,656 (+)Ensembl
Ensembl Acc Id: ENST00000483293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,857,360 - 189,867,929 (+)Ensembl
Ensembl Acc Id: ENST00000618056   ⟹   ENSP00000480632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,085 - 189,877,628 (+)Ensembl
Ensembl Acc Id: ENST00000624204   ⟹   ENSP00000485312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,085 - 189,877,628 (+)Ensembl
Ensembl Acc Id: ENST00000639501   ⟹   ENSP00000491236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,784,085 - 189,864,359 (+)Ensembl
RefSeq Acc Id: NM_000534   ⟹   NP_000525
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
GRCh372190,648,710 - 190,742,355 (+)NCBI
Build 362190,357,355 - 190,450,600 (+)NCBI Archive
HuRef2182,508,462 - 182,602,272 (+)ENTREZGENE
CHM1_12190,654,694 - 190,748,309 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128143   ⟹   NP_001121615
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
GRCh372190,648,710 - 190,742,355 (+)NCBI
HuRef2182,508,462 - 182,602,272 (+)ENTREZGENE
CHM1_12190,654,694 - 190,748,309 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128144   ⟹   NP_001121616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
GRCh372190,648,710 - 190,742,355 (+)NCBI
HuRef2182,508,462 - 182,602,272 (+)ENTREZGENE
CHM1_12190,654,694 - 190,748,309 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289408   ⟹   NP_001276337
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
HuRef2182,508,462 - 182,602,272 (+)NCBI
CHM1_12190,654,694 - 190,748,309 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289409   ⟹   NP_001276338
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
HuRef2182,508,462 - 182,602,272 (+)NCBI
CHM1_12190,654,694 - 190,748,309 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321044   ⟹   NP_001307973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
CHM1_12190,654,694 - 190,748,309 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321045   ⟹   NP_001307974
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
CHM1_12190,654,694 - 190,748,309 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321046   ⟹   NP_001307975
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
CHM1_12190,654,694 - 190,748,309 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321047   ⟹   NP_001307976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
CHM1_12190,654,694 - 190,748,309 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321048   ⟹   NP_001307977
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
CHM1_12190,654,694 - 190,748,309 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321049   ⟹   NP_001307978
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,807,054 (+)NCBI
CHM1_12190,654,694 - 190,677,663 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,296,343 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321051   ⟹   NP_001307980
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,806,846 (+)NCBI
CHM1_12190,654,694 - 190,677,460 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,296,135 (+)NCBI
Sequence:
RefSeq Acc Id: NR_110332
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
HuRef2182,508,462 - 182,602,272 (+)NCBI
CHM1_12190,654,694 - 190,748,309 (+)NCBI
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712596   ⟹   XP_006712659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,822,130 - 189,877,629 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004344   ⟹   XP_016859833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004347   ⟹   XP_016859836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004348   ⟹   XP_016859837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004350   ⟹   XP_016859839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452966   ⟹   XP_024308734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452967   ⟹   XP_024308735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047444775   ⟹   XP_047300731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
RefSeq Acc Id: XM_047444776   ⟹   XP_047300732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,867,924 (+)NCBI
RefSeq Acc Id: XM_047444777   ⟹   XP_047300733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
RefSeq Acc Id: XM_047444778   ⟹   XP_047300734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,450 - 189,877,629 (+)NCBI
RefSeq Acc Id: XM_054342577   ⟹   XP_054198552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,273,777 - 190,366,996 (+)NCBI
RefSeq Acc Id: XM_054342578   ⟹   XP_054198553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
RefSeq Acc Id: XM_054342579   ⟹   XP_054198554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
RefSeq Acc Id: XM_054342580   ⟹   XP_054198555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
RefSeq Acc Id: XM_054342581   ⟹   XP_054198556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
RefSeq Acc Id: XM_054342582   ⟹   XP_054198557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,273,733 - 190,357,291 (+)NCBI
RefSeq Acc Id: XM_054342583   ⟹   XP_054198558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
RefSeq Acc Id: XM_054342584   ⟹   XP_054198559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
RefSeq Acc Id: XM_054342585   ⟹   XP_054198560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,311,419 - 190,366,996 (+)NCBI
RefSeq Acc Id: XM_054342586   ⟹   XP_054198561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
RefSeq Acc Id: XM_054342587   ⟹   XP_054198562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,273,733 - 190,366,996 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000525 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121615 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121616 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276337 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276338 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307973 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307974 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307975 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307976 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307977 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307978 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307980 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712659 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859833 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859836 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859837 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859839 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308734 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308735 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300731 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300732 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300733 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300734 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198552 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198553 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198554 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198555 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198556 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198557 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198558 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198559 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198560 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198561 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198562 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA63922 (Get FASTA)   NCBI Sequence Viewer  
  AAH84548 (Get FASTA)   NCBI Sequence Viewer  
  AAH96330 (Get FASTA)   NCBI Sequence Viewer  
  AAH96331 (Get FASTA)   NCBI Sequence Viewer  
  AAH96332 (Get FASTA)   NCBI Sequence Viewer  
  AAO89079 (Get FASTA)   NCBI Sequence Viewer  
  AAP35593 (Get FASTA)   NCBI Sequence Viewer  
  ABB04019 (Get FASTA)   NCBI Sequence Viewer  
  ABB04020 (Get FASTA)   NCBI Sequence Viewer  
  BAD89398 (Get FASTA)   NCBI Sequence Viewer  
  BAD89399 (Get FASTA)   NCBI Sequence Viewer  
  BAD89400 (Get FASTA)   NCBI Sequence Viewer  
  BAD89401 (Get FASTA)   NCBI Sequence Viewer  
  BAD89402 (Get FASTA)   NCBI Sequence Viewer  
  BAD89403 (Get FASTA)   NCBI Sequence Viewer  
  BAD89404 (Get FASTA)   NCBI Sequence Viewer  
  BAD89405 (Get FASTA)   NCBI Sequence Viewer  
  BAD89406 (Get FASTA)   NCBI Sequence Viewer  
  BAG58489 (Get FASTA)   NCBI Sequence Viewer  
  BAG59866 (Get FASTA)   NCBI Sequence Viewer  
  BAG65413 (Get FASTA)   NCBI Sequence Viewer  
  BAH14586 (Get FASTA)   NCBI Sequence Viewer  
  CAH18270 (Get FASTA)   NCBI Sequence Viewer  
  EAX10883 (Get FASTA)   NCBI Sequence Viewer  
  EAX10884 (Get FASTA)   NCBI Sequence Viewer  
  EAX10885 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000343888.4
  ENSP00000363959
  ENSP00000363959.4
  ENSP00000386623
  ENSP00000386623.1
  ENSP00000387125
  ENSP00000387125.3
  ENSP00000387169.1
  ENSP00000389938
  ENSP00000389938.1
  ENSP00000391136.1
  ENSP00000396232.1
  ENSP00000398378
  ENSP00000398378.3
  ENSP00000401064
  ENSP00000401064.2
  ENSP00000404492.4
  ENSP00000406225.1
  ENSP00000406490
  ENSP00000406490.3
  ENSP00000410082.1
  ENSP00000411151.1
  ENSP00000413837.1
  ENSP00000480632.1
  ENSP00000485312
  ENSP00000485312.1
GenBank Protein P54277 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000525   ⟸   NM_000534
- Peptide Label: isoform a
- UniProtKB: Q5FBZ6 (UniProtKB/Swiss-Prot),   Q5FBZ3 (UniProtKB/Swiss-Prot),   Q4VAL4 (UniProtKB/Swiss-Prot),   D3DPI1 (UniProtKB/Swiss-Prot),   Q5FBZ8 (UniProtKB/Swiss-Prot),   P54277 (UniProtKB/Swiss-Prot),   B4DIH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121616   ⟸   NM_001128144
- Peptide Label: isoform c
- UniProtKB: I6L9H5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121615   ⟸   NM_001128143
- Peptide Label: isoform b
- UniProtKB: B4DIH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276337   ⟸   NM_001289408
- Peptide Label: isoform d
- UniProtKB: B4DIH7 (UniProtKB/TrEMBL),   B7ZAA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276338   ⟸   NM_001289409
- Peptide Label: isoform d
- UniProtKB: B7ZAA0 (UniProtKB/TrEMBL),   B4DIH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712659   ⟸   XM_006712596
- Peptide Label: isoform X5
- UniProtKB: B4DIH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307976   ⟸   NM_001321047
- Peptide Label: isoform a
- UniProtKB: Q5FBZ6 (UniProtKB/Swiss-Prot),   Q5FBZ3 (UniProtKB/Swiss-Prot),   Q4VAL4 (UniProtKB/Swiss-Prot),   D3DPI1 (UniProtKB/Swiss-Prot),   Q5FBZ8 (UniProtKB/Swiss-Prot),   P54277 (UniProtKB/Swiss-Prot),   B4DIH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307974   ⟸   NM_001321045
- Peptide Label: isoform a
- UniProtKB: Q5FBZ6 (UniProtKB/Swiss-Prot),   Q5FBZ3 (UniProtKB/Swiss-Prot),   Q4VAL4 (UniProtKB/Swiss-Prot),   D3DPI1 (UniProtKB/Swiss-Prot),   Q5FBZ8 (UniProtKB/Swiss-Prot),   P54277 (UniProtKB/Swiss-Prot),   B4DIH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307973   ⟸   NM_001321044
- Peptide Label: isoform f
- UniProtKB: I6L9H5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307975   ⟸   NM_001321046
- Peptide Label: isoform e
- UniProtKB: B4DIH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307977   ⟸   NM_001321048
- Peptide Label: isoform a
- UniProtKB: Q5FBZ6 (UniProtKB/Swiss-Prot),   Q5FBZ3 (UniProtKB/Swiss-Prot),   Q4VAL4 (UniProtKB/Swiss-Prot),   D3DPI1 (UniProtKB/Swiss-Prot),   Q5FBZ8 (UniProtKB/Swiss-Prot),   P54277 (UniProtKB/Swiss-Prot),   B4DIH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307978   ⟸   NM_001321049
- Peptide Label: isoform g
- UniProtKB: E9PC40 (UniProtKB/TrEMBL),   Q7KZT4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307980   ⟸   NM_001321051
- Peptide Label: isoform h
- UniProtKB: Q5XG96 (UniProtKB/TrEMBL),   Q7KZT4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859839   ⟸   XM_017004350
- Peptide Label: isoform X6
- UniProtKB: I6L9H5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859833   ⟸   XM_017004344
- Peptide Label: isoform X1
- UniProtKB: B4DIH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859836   ⟸   XM_017004347
- Peptide Label: isoform X2
- UniProtKB: B4DIH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859837   ⟸   XM_017004348
- Peptide Label: isoform X4
- UniProtKB: I6L9H5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308735   ⟸   XM_024452967
- Peptide Label: isoform X1
- UniProtKB: B4DIH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308734   ⟸   XM_024452966
- Peptide Label: isoform X1
- UniProtKB: B4DIH7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000389938   ⟸   ENST00000424307
Ensembl Acc Id: ENSP00000410082   ⟸   ENST00000424766
Ensembl Acc Id: ENSP00000406225   ⟸   ENST00000450931
Ensembl Acc Id: ENSP00000396232   ⟸   ENST00000452382
Ensembl Acc Id: ENSP00000485312   ⟸   ENST00000624204
Ensembl Acc Id: ENSP00000363959   ⟸   ENST00000374826
Ensembl Acc Id: ENSP00000491236   ⟸   ENST00000639501
Ensembl Acc Id: ENSP00000406490   ⟸   ENST00000441310
Ensembl Acc Id: ENSP00000404492   ⟸   ENST00000418224
Ensembl Acc Id: ENSP00000398378   ⟸   ENST00000432292
Ensembl Acc Id: ENSP00000413837   ⟸   ENST00000446877
Ensembl Acc Id: ENSP00000480632   ⟸   ENST00000618056
Ensembl Acc Id: ENSP00000401064   ⟸   ENST00000447232
Ensembl Acc Id: ENSP00000411151   ⟸   ENST00000447734
Ensembl Acc Id: ENSP00000387125   ⟸   ENST00000409823
Ensembl Acc Id: ENSP00000386623   ⟸   ENST00000409985
Ensembl Acc Id: ENSP00000387169   ⟸   ENST00000409593
Ensembl Acc Id: ENSP00000391136   ⟸   ENST00000420421
Ensembl Acc Id: ENSP00000343888   ⟸   ENST00000342075
RefSeq Acc Id: XP_047300731   ⟸   XM_047444775
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047300733   ⟸   XM_047444777
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047300734   ⟸   XM_047444778
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047300732   ⟸   XM_047444776
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054198559   ⟸   XM_054342584
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054198553   ⟸   XM_054342578
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054198554   ⟸   XM_054342579
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054198561   ⟸   XM_054342586
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054198556   ⟸   XM_054342581
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054198558   ⟸   XM_054342583
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054198555   ⟸   XM_054342580
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054198562   ⟸   XM_054342587
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054198557   ⟸   XM_054342582
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054198552   ⟸   XM_054342577
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054198560   ⟸   XM_054342585
- Peptide Label: isoform X5
Protein Domains
HMG box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P54277-F1-model_v2 AlphaFold P54277 1-932 view protein structure

Promoters
RGD ID:6862328
Promoter ID:EPDNEW_H4329
Type:initiation region
Name:PMS1_2
Description:PMS1 homolog 1, mismatch repair system component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4331  EPDNEW_H4332  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,115 - 189,784,175EPDNEW
RGD ID:6862332
Promoter ID:EPDNEW_H4331
Type:initiation region
Name:PMS1_1
Description:PMS1 homolog 1, mismatch repair system component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4329  EPDNEW_H4332  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,784,512 - 189,784,572EPDNEW
RGD ID:6862334
Promoter ID:EPDNEW_H4332
Type:initiation region
Name:PMS1_3
Description:PMS1 homolog 1, mismatch repair system component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4329  EPDNEW_H4331  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,791,873 - 189,791,933EPDNEW
RGD ID:6797161
Promoter ID:HG_KWN:36347
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000374827,   ENST00000392338,   NM_000534,   NM_001128143,   NM_001128144,   OTTHUMT00000335285,   OTTHUMT00000335287,   OTTHUMT00000335288,   OTTHUMT00000335292,   OTTHUMT00000335293,   OTTHUMT00000335294,   UC002URG.2,   UC002URJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362190,357,121 - 190,357,621 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9121 AgrOrtholog
COSMIC PMS1 COSMIC
Ensembl Genes ENSG00000064933 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000342075.8 UniProtKB/TrEMBL
  ENST00000374826 ENTREZGENE
  ENST00000374826.8 UniProtKB/TrEMBL
  ENST00000409593.5 UniProtKB/Swiss-Prot
  ENST00000409823 ENTREZGENE
  ENST00000409823.7 UniProtKB/Swiss-Prot
  ENST00000409985 ENTREZGENE
  ENST00000409985.5 UniProtKB/TrEMBL
  ENST00000418224.7 UniProtKB/TrEMBL
  ENST00000420421.1 UniProtKB/TrEMBL
  ENST00000424307 ENTREZGENE
  ENST00000424307.5 UniProtKB/TrEMBL
  ENST00000424766.5 UniProtKB/TrEMBL
  ENST00000432292 ENTREZGENE
  ENST00000432292.7 UniProtKB/TrEMBL
  ENST00000441310 ENTREZGENE
  ENST00000441310.7 UniProtKB/Swiss-Prot
  ENST00000446877.5 UniProtKB/TrEMBL
  ENST00000447232 ENTREZGENE
  ENST00000447232.6 UniProtKB/Swiss-Prot
  ENST00000447734.5 UniProtKB/TrEMBL
  ENST00000450931 ENTREZGENE
  ENST00000450931.5 UniProtKB/TrEMBL
  ENST00000452382.1 UniProtKB/TrEMBL
  ENST00000618056.4 UniProtKB/TrEMBL
  ENST00000624204 ENTREZGENE
  ENST00000624204.3 UniProtKB/TrEMBL
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.230.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.565.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000064933 GTEx
HGNC ID HGNC:9121 ENTREZGENE
Human Proteome Map PMS1 Human Proteome Map
InterPro DNA_mismatch_repair_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_mismatch_repair_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_mismatch_S5_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HATPase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MutL/Mlh/Pms UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold_subgr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5378 UniProtKB/Swiss-Prot
NCBI Gene 5378 ENTREZGENE
OMIM 600258 OMIM
PANTHER PMS1 PROTEIN HOMOLOG 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DNA_mis_repair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HATPase_c_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33447 PharmGKB
PROSITE DNA_MISMATCH_REPAIR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_BOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DNA_mis_repair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47095 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54211 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55874 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DIH7 ENTREZGENE, UniProtKB/TrEMBL
  B7ZAA0 ENTREZGENE, UniProtKB/TrEMBL
  C9J4L1_HUMAN UniProtKB/TrEMBL
  C9JF76_HUMAN UniProtKB/TrEMBL
  C9JKP0_HUMAN UniProtKB/TrEMBL
  D3DPI1 ENTREZGENE
  E9PC40 ENTREZGENE, UniProtKB/TrEMBL
  E9PC65_HUMAN UniProtKB/TrEMBL
  E9PH88_HUMAN UniProtKB/TrEMBL
  F8W8L1_HUMAN UniProtKB/TrEMBL
  I6L9H5 ENTREZGENE, UniProtKB/TrEMBL
  P54277 ENTREZGENE, UniProtKB/Swiss-Prot
  Q3BDU3_HUMAN UniProtKB/TrEMBL
  Q3BDU4_HUMAN UniProtKB/TrEMBL
  Q4VAL4 ENTREZGENE
  Q5FBZ1_HUMAN UniProtKB/TrEMBL
  Q5FBZ2_HUMAN UniProtKB/TrEMBL
  Q5FBZ3 ENTREZGENE
  Q5FBZ4_HUMAN UniProtKB/TrEMBL
  Q5FBZ5_HUMAN UniProtKB/TrEMBL
  Q5FBZ6 ENTREZGENE
  Q5FBZ7_HUMAN UniProtKB/TrEMBL
  Q5FBZ8 ENTREZGENE
  Q5FBZ9_HUMAN UniProtKB/TrEMBL
  Q5XG96 ENTREZGENE, UniProtKB/TrEMBL
  Q7KZT4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary D3DPI1 UniProtKB/Swiss-Prot
  Q4VAL4 UniProtKB/Swiss-Prot
  Q5FBZ3 UniProtKB/Swiss-Prot
  Q5FBZ6 UniProtKB/Swiss-Prot
  Q5FBZ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-14 PMS1  PMS1 homolog 1, mismatch repair system component  PMS1  PMS1 postmeiotic segregation increased 1 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED