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



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PMS1HumanColorectal Neoplasms  TAS 2306714 RGD 
PMS1Humandermatomyositis  IDA 2324870 RGD 
PMS1HumanLynch syndrome  IAGP 1599137 RGD 
PMS1Humanpancreatic ductal carcinoma  IDA 2324870protein:increased expression:pancreatic ductRGD 
PMS1Humanpolymyositis  IDA 2324870 RGD 
1 to 14 of 14 rows
Object Symbol
Species
Term
Qualifier
Evidence
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Reference
Notes
Source
Original Reference(s)
PMS1Humanbreast cancer  IAGPRGD:86882708554872ClinVar Annotator: match by term: PMS1-related breast cancerClinVarPMID:24728327|PMID:25741868
PMS1HumanColonic Polyps  IAGPRGD:143501018554872ClinVar Annotator: match by term: Colon polypsClinVarPMID:25637381|PMID:25741868
PMS1HumanColonic Polyps  IAGPRGD:143501058554872ClinVar Annotator: match by term: Colon polypsClinVarPMID:25637381
PMS1Humancolorectal cancer  IAGPRGD:1267295478554872ClinVar Annotator: match by term: Colorectal cancerClinVar 
PMS1Humanhereditary breast ovarian cancer syndrome  IAGPRGD:1269087168554872ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndromeClinVarPMID:25741868
PMS1Humanhereditary breast ovarian cancer syndrome  IAGPRGD:8688257|RGD:86882668554872ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndromeClinVarPMID:24728327|PMID:25741868
PMS1Humanimmunodeficiency 31B  IAGPRGD:1564381758554872ClinVar Annotator: match by term: Immunodeficiency 31BClinVarPMID:28492532
PMS1HumanLynch syndrome  IAGPRGD:136123268554872ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinomaClinVarPMID:25741868
PMS1HumanLynch syndrome  IAGPRGD:116667178554872ClinVar Annotator: match by term: Lynch syndromeClinVar 
PMS1HumanLynch syndrome 1  IAGPRGD:86882628554872ClinVar Annotator: match by term: Lynch syndrome 1ClinVarPMID:24728327|PMID:25741868|PMID:28492532
PMS1HumanLynch syndrome 1  IAGPRGD:243054476|RGD:384608748554872ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch more ...ClinVarPMID:25741868
PMS1HumanNeurodevelopmental Disorders  IAGPRGD:146982858554872ClinVar Annotator: match by term: Neurodevelopmental disorderClinVarPMID:25741868
PMS1Humanovarian cancer  IAGPRGD:86882548554872ClinVar Annotator: match by term: Ovarian cancerClinVarPMID:24728327|PMID:25741868
PMS1Humanovarian cancer  IAGPRGD:243054463|RGD:243054467|RGD:243054471|RGD:243054473|RGD:243054476|RGD:243054566|RGD:2430546798554872ClinVar Annotator: match by term: Ovarian cancerClinVarPMID:25741868
1 to 14 of 14 rows
Object Symbol
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Evidence
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Reference
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Source
Original Reference(s)
PMS1HumanLynch syndrome 1  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
PMS1HumanProstatic Neoplasms  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:29610475

1 to 20 of 98 rows

  
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Original Reference(s)
PMS1Human(-)-epigallocatechin 3-gallate multiple interactionsEXP 6480464[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of PMS1 mRNACTDPMID:22079256
PMS1Human1,2-dimethylhydrazine decreases expressionISORGD:161736764804641,2-Dimethylhydrazine results in decreased expression of PMS1 mRNACTDPMID:22206623
PMS1Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionEXP 6480464Tetrachlorodibenzodioxin results in decreased expression of PMS1 mRNACTDPMID:17101203|PMID:20106945|PMID:21632981
PMS1Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISORGD:13595116480464Tetrachlorodibenzodioxin results in increased expression of PMS1 mRNACTDPMID:33387578
PMS1Human3,4-methylenedioxymethamphetamine decreases expressionISORGD:16173676480464N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of PMS1 mRNACTDPMID:26251327
PMS1Human3-isobutyl-1-methyl-7H-xanthine multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...CTDPMID:28628672
PMS1Human4,4'-sulfonyldiphenol increases expressionISORGD:16173676480464bisphenol S results in increased expression of PMS1 mRNACTDPMID:39298647
PMS1Human4-hydroperoxycyclophosphamide decreases expressionISORGD:13595116480464perfosfamide results in decreased expression of PMS1 mRNACTDPMID:11754170
PMS1Humanacrolein multiple interactionsEXP 6480464[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased expression of more ...CTDPMID:32699268
PMS1Humanacrylamide decreases expressionISORGD:16173676480464Acrylamide results in decreased expression of PMS1 mRNACTDPMID:30807115
PMS1Humanaflatoxin B1 decreases methylationEXP 6480464Aflatoxin B1 results in decreased methylation of PMS1 geneCTDPMID:27153756
PMS1Humanall-trans-retinoic acid decreases expressionEXP 6480464Tretinoin results in decreased expression of PMS1 mRNACTDPMID:33167477
PMS1Humanalpha-pinene multiple interactionsEXP 6480464[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased expression of more ...CTDPMID:32699268
PMS1Humanantirheumatic drug increases expressionEXP 6480464Antirheumatic Agents results in increased expression of PMS1 mRNACTDPMID:24449571
PMS1Humanaristolochic acid A decreases expressionEXP 6480464aristolochic acid I results in decreased expression of PMS1 mRNACTDPMID:33212167
PMS1Humanasbestos affects response to substanceEXP 6480464PMS1 alternative form affects the susceptibility to AsbestosCTDPMID:28687356
PMS1Humanbenzo[a]pyrene decreases expressionEXP 6480464Benzo(a)pyrene results in decreased expression of PMS1 mRNACTDPMID:20064835
PMS1Humanbenzo[a]pyrene increases methylationISORGD:16173676480464Benzo(a)pyrene results in increased methylation of PMS1 intronCTDPMID:27901495
PMS1Humanbenzo[a]pyrene increases expressionISORGD:16173676480464Benzo(a)pyrene results in increased expression of PMS1 mRNACTDPMID:22641617
PMS1Humanbeta-lapachone decreases expressionEXP 6480464beta-lapachone results in decreased expression of PMS1 mRNACTDPMID:38218311

1 to 20 of 98 rows

Biological Process

  
Object Symbol
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Original Reference(s)
PMS1HumanDNA damage response involved_inIEAUniProtKB-KW:KW-0227150520179 UniProtGO_REF:0000043
PMS1HumanDNA repair involved_inIEAUniProtKB-KW:KW-0234150520179 UniProtGO_REF:0000043
PMS1Humanmismatch repair involved_inTAS 150520179 PMID:8072530PINCPMID:8072530
PMS1Humanmismatch repair acts_upstream_of_or_withinIEAUniProtKB:Q8K119|ensembl:ENSMUSP00000027267150520179 EnsemblGO_REF:0000107
PMS1Humanmismatch repair involved_inIBAMGI:101938|MGI:104288|MGI:1202302|MGI:1353455|PANTHER:PTN000008161|PomBase:SPAC19G12.02c|SGD:S000004025|SGD:S000004777|SGD:S000005026|SGD:S000006085|TAIR:locus:2133274|UniProtKB:P23367|UniProtKB:P40692|UniProtKB:P54278|UniProtKB:Q57TS9150520179 GO_CentralGO_REF:0000033
PMS1Humanmismatch repair involved_inIEAInterPro:IPR002099|InterPro:IPR013507|InterPro:IPR038973150520179 InterProGO_REF:0000002
PMS1Humanresponse to xenobiotic stimulus  ISORGD:135951190689414-hydroperoxycyclophosphamideRGDPMID:11754170|REF_RGD_ID:2302854
PMS1Humanresponse to xenobiotic stimulus involved_inIEAUniProtKB:D4A651|ensembl:ENSRNOP00000047584150520179 EnsemblGO_REF:0000107

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
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Reference
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Source
Original Reference(s)
PMS1Humanmismatch repair complex part_ofIEAInterPro:IPR038973150520179 InterProGO_REF:0000002
PMS1HumanMutLalpha complex part_ofIBAMGI:104288|PANTHER:PTN000008284|SGD:S000005026150520179 GO_CentralGO_REF:0000033
PMS1Humannucleus located_inIDA 150520179 PMID:26300262UniProtPMID:26300262
PMS1Humannucleus located_inIEAUniRule:UR000400811150520179 UniProtGO_REF:0000104
PMS1Humannucleus located_inIEAUniProtKB-KW:KW-0539150520179 UniProtGO_REF:0000043
PMS1Humannucleus located_inIEAUniProtKB-SubCell:SL-0191150520179 UniProtGO_REF:0000044
PMS1Humannucleus located_inTAS 150520179 PMID:8072530PINCPMID:8072530

Molecular Function
1 to 11 of 11 rows

  
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Original Reference(s)
PMS1HumanATP binding enablesIEAInterPro:IPR002099|InterPro:IPR013507150520179 InterProGO_REF:0000002
PMS1HumanATP hydrolysis activity enablesIEAInterPro:IPR038973150520179 InterProGO_REF:0000002
PMS1HumanATP hydrolysis activity enablesIBAPANTHER:PTN000008161|SGD:S000004777|SGD:S000005026|UniProtKB:P23367|UniProtKB:Q8IIJ0150520179 GO_CentralGO_REF:0000033
PMS1HumanATP-dependent DNA damage sensor activity enablesIEAInterPro:IPR038973150520179 InterProGO_REF:0000002
PMS1HumanDNA binding enablesTAS 150520179 PMID:8072530PINCPMID:8072530
PMS1HumanDNA binding enablesIEAUniRule:UR000400811150520179 UniProtGO_REF:0000104
PMS1HumanDNA binding enablesIEAUniProtKB-KW:KW-0238150520179 UniProtGO_REF:0000043
PMS1Humanenzyme binding enablesIPIUniProtKB:Q9NXL9150520179 PMID:26300262UniProtPMID:26300262
PMS1Humanmismatched DNA binding enablesIEAInterPro:IPR002099|InterPro:IPR013507150520179 InterProGO_REF:0000002
PMS1Humanprotein binding enablesIPIUniProtKB:P40692150520179 PMID:11292842, PMID:25502805, PMID:33961781, PMID:34591612IntActPMID:11292842|PMID:25502805|PMID:33961781|PMID:34591612
PMS1Humanprotein binding enablesIPIUniProtKB:P51808150520179 PMID:32296183IntActPMID:32296183
1 to 11 of 11 rows

RGD Manual Annotations


  
Object Symbol
Species
Term
Qualifier
Evidence
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Reference
Notes
Source
Original Reference(s)
PMS1Humanaltered mismatch repair pathway  TAS 2306714 RGD 
PMS1Humancolorectal cancer pathway   TAS 2306714 RGD 
PMS1Humanmismatch repair pathway   TAS 2306716 RGD 
1 to 20 of 63 rows
Object Symbol
Species
Term
Qualifier
Evidence
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Reference
Notes
Source
Original Reference(s)
PMS1HumanAbdominal pain  IAGP 8699517 HPOORPHA:144
PMS1HumanAbnormal pyramidal sign  IAGP 8699517 HPOORPHA:144
PMS1HumanAbnormal speech pattern  IAGP 8699517 HPOORPHA:144
PMS1HumanAdenoma sebaceum  IAGP 8699517 HPOORPHA:144
PMS1HumanAmaurosis fugax  IAGP 8699517 HPOORPHA:144
PMS1HumanAnxiety  IAGP 8699517 HPOORPHA:144
PMS1HumanAttention deficit hyperactivity disorder  IAGP 8699517 HPOORPHA:144
PMS1HumanAtypical behavior  IAGP 8699517 HPOORPHA:144
PMS1HumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:120435
PMS1HumanBasal cell carcinoma  IAGP 8699517 HPOORPHA:144
PMS1HumanBenign neoplasm of the central nervous system  IAGP 8699517 HPOORPHA:144
PMS1HumanBreast carcinoma  IAGP 8699517 HPOORPHA:144
PMS1HumanCardiac diverticulum  IAGP 8699517 HPOORPHA:144
PMS1HumanColon cancer  IAGP 8699517 HPOMIM:120435|ORPHA:144
PMS1HumanConstipation  IAGP 8699517 HPOORPHA:144
PMS1HumanDeath in early adulthood  IAGP 8699517 HPOORPHA:144
PMS1HumanDeath in infancy  IAGP 8699517 HPOORPHA:144
PMS1HumanDepression  IAGP 8699517 HPOORPHA:144
PMS1HumanDevelopmental regression  IAGP 8699517 HPOORPHA:144
PMS1HumanDisturbed sensory perception  IAGP 8699517 HPOORPHA:144
1 to 20 of 63 rows
1 to 10 of 10 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PMS1HumanColon cancer  IAGPRGD:1267295478554872ClinVar Annotator: match by term: Colorectal cancerClinVar 
PMS1HumanHereditary nonpolyposis colorectal carcinoma  IAGPRGD:136123268554872ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinomaClinVarPMID:25741868
PMS1HumanOvarian neoplasm  IAGPRGD:2430544768554872ClinVar Annotator: match by term: Ovarian cancerClinVarPMID:25741868
PMS1HumanOvarian neoplasm  IAGPRGD:2430544638554872ClinVar Annotator: match by term: Ovarian cancerClinVarPMID:25741868
PMS1HumanOvarian neoplasm  IAGPRGD:2430546798554872ClinVar Annotator: match by term: Ovarian cancerClinVarPMID:25741868
PMS1HumanOvarian neoplasm  IAGPRGD:2430544678554872ClinVar Annotator: match by term: Ovarian cancerClinVarPMID:25741868
PMS1HumanOvarian neoplasm  IAGPRGD:86882548554872ClinVar Annotator: match by term: Ovarian cancerClinVarPMID:24728327|PMID:25741868
PMS1HumanOvarian neoplasm  IAGPRGD:2430544718554872ClinVar Annotator: match by term: Ovarian cancerClinVarPMID:25741868
PMS1HumanOvarian neoplasm  IAGPRGD:2430545668554872ClinVar Annotator: match by term: Ovarian cancerClinVarPMID:25741868
PMS1HumanOvarian neoplasm  IAGPRGD:2430544738554872ClinVar Annotator: match by term: Ovarian cancerClinVarPMID:25741868
1 to 10 of 10 rows

#
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
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:36897256   PMID:37059091   PMID:37314216   PMID:37689310   PMID:37723588  
PMID:37827155   PMID:38777146   PMID:39617063  



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 in PMS1
126 total Variants

1 to 10 of 176 rows
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
1 to 10 of 176 rows

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.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597274792GWAS1370866_Hgrowth/differentiation factor 11/8 measurement QTL GWAS1370866 (human)2e-17growth/differentiation factor 11/8 measurement2189849242189849243Human
597323475GWAS1419549_Hgrowth/differentiation factor 8 measurement QTL GWAS1419549 (human)7e-18growth/differentiation factor 8 measurement2189849242189849243Human
407041112GWAS690088_Hferritin measurement QTL GWAS690088 (human)2e-10ferritin measurement2189784590189784591Human
597020974GWAS1117048_Hferritin measurement QTL GWAS1117048 (human)0.0000002ferritin measurement2189832613189832614Human

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




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


1 to 30 of 92 rows
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
1 to 30 of 92 rows

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
1 to 30 of 73 rows
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  
1 to 30 of 73 rows
1 to 5 of 53 rows
1 to 5 of 53 rows
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:
HMG box

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

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


1 to 40 of 77 rows
Database
Acc Id
Source(s)
COSMIC PMS1 COSMIC
Ensembl Genes ENSG00000064933 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374826 ENTREZGENE
  ENST00000409593.5 UniProtKB/Swiss-Prot
  ENST00000409823 ENTREZGENE
  ENST00000409823.7 UniProtKB/Swiss-Prot
  ENST00000409985 ENTREZGENE
  ENST00000424307 ENTREZGENE
  ENST00000432292 ENTREZGENE
  ENST00000441310 ENTREZGENE
  ENST00000441310.7 UniProtKB/Swiss-Prot
  ENST00000447232 ENTREZGENE
  ENST00000447232.6 UniProtKB/Swiss-Prot
  ENST00000450931 ENTREZGENE
  ENST00000624204 ENTREZGENE
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot
  3.30.230.10 UniProtKB/Swiss-Prot
  3.30.565.10 UniProtKB/Swiss-Prot
GTEx ENSG00000064933 GTEx
HGNC ID HGNC:9121 ENTREZGENE
Human Proteome Map PMS1 Human Proteome Map
InterPro DNA_mismatch_repair_CS UniProtKB/Swiss-Prot
  DNA_mismatch_repair_N UniProtKB/Swiss-Prot
  DNA_mismatch_S5_2-like UniProtKB/Swiss-Prot
  HATPase_C_sf UniProtKB/Swiss-Prot
  HMG_box_dom UniProtKB/Swiss-Prot
  HMG_box_dom_sf UniProtKB/Swiss-Prot
  MutL/Mlh/Pms UniProtKB/Swiss-Prot
  Ribosomal_S5_D2-typ_fold UniProtKB/Swiss-Prot
  Ribosomal_S5_D2-typ_fold_subgr UniProtKB/Swiss-Prot
KEGG Report hsa:5378 UniProtKB/Swiss-Prot
NCBI Gene 5378 ENTREZGENE
OMIM 600258 OMIM
PANTHER PMS1 PROTEIN HOMOLOG 1 UniProtKB/Swiss-Prot
  PTHR10073 UniProtKB/Swiss-Prot
Pfam DNA_mis_repair UniProtKB/Swiss-Prot
  HATPase_c_3 UniProtKB/Swiss-Prot
  HMG_box UniProtKB/Swiss-Prot
PharmGKB PA33447 PharmGKB
PROSITE DNA_MISMATCH_REPAIR_1 UniProtKB/Swiss-Prot
1 to 40 of 77 rows


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