PSEN1 (presenilin 1) - Rat Genome Database

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Gene: PSEN1 (presenilin 1) Homo sapiens
Analyze
Symbol: PSEN1
Name: presenilin 1
RGD ID: 731724
HGNC Page HGNC:9508
Description: Enables several functions, including ATPase binding activity; PDZ domain binding activity; and aspartic endopeptidase activity, intramembrane cleaving. Involved in several processes, including proteolysis; regulation of macromolecule metabolic process; and regulation of phosphate metabolic process. Acts upstream of or within cell-cell adhesion and endoplasmic reticulum calcium ion homeostasis. Located in several cellular components, including aggresome; endoplasmic reticulum; and nucleus. Part of gamma-secretase complex. Is active in dendrite. Implicated in Alzheimer's disease (multiple); dilated cardiomyopathy 1U; frontotemporal dementia (multiple); and hidradenitis suppurativa.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACNINV3; AD3; CMD1U; FAD; familial Alzheimer Disease; presenilin 1 (Alzheimer disease 3); presenilin-1; presenilin-1 isoform I-467; PS-1; PS1; PSNL1; S182
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381473,136,417 - 73,223,691 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1473,136,418 - 73,223,691 (+)EnsemblGRCh38hg38GRCh38
GRCh371473,603,215 - 73,690,399 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361472,672,932 - 72,756,862 (+)NCBINCBI36Build 36hg18NCBI36
Build 341472,684,480 - 72,755,750NCBI
Celera1453,666,429 - 53,753,632 (+)NCBICelera
Cytogenetic Map14q24.2NCBI
HuRef1453,768,824 - 53,855,913 (+)NCBIHuRef
CHM1_11473,542,049 - 73,629,540 (+)NCBICHM1_1
T2T-CHM13v2.01467,341,963 - 67,429,152 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
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Original Reference(s)
PSEN1HumanAlzheimer's disease  IAGP 1302519DNA:missense mutations:cds:multiple (human)RGD 
PSEN1HumanAlzheimer's disease  IMP 13782044 RGD 
PSEN1HumanCerebral Hemorrhage  ISOPsen1 (Mus musculus)1580694 RGD 
PSEN1HumanIntracranial Hemorrhages  ISOPsen1 (Mus musculus)1302520 RGD 
PSEN1Humantraumatic brain injury  ISOPsen1 (Mus musculus)13801189 RGD 
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Original Reference(s)
PSEN1HumanAlzheimer's disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:11524469 more ...
PSEN1HumanAlzheimer's disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Early-Onset Familial Alzheimer DiseaseClinVarPMID:17962197 more ...
PSEN1HumanAlzheimer's disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:30279455
PSEN1HumanAlzheimer's disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:25741868 and PMID:30279455
PSEN1HumanAlzheimer's disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Early-Onset Familial Alzheimer DiseaseClinVarPMID:11389157 more ...
PSEN1HumanAlzheimer's disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:11524469 more ...
PSEN1HumanAlzheimer's disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Early-Onset Familial Alzheimer DiseaseClinVar 
PSEN1HumanAlzheimer's disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:10075646 more ...
PSEN1HumanAlzheimer's disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Familial Alzheimer diseaseClinVarPMID:10208579 more ...
PSEN1HumanAlzheimer's disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:10643802 more ...
PSEN1HumanAlzheimer's disease 3  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer disease 3ClinVarPMID:9436726
PSEN1HumanAlzheimer's disease 3  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer disease 3ClinVarPMID:10441572 more ...
PSEN1HumanAlzheimer's disease 3  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer disease 3ClinVarPMID:7550356
PSEN1HumanAlzheimer's disease 3  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer disease 3ClinVarPMID:11524469 more ...
PSEN1HumanAlzheimer's disease 3  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868 and PMID:28492532
PSEN1HumanAlzheimer's disease 3  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer disease 3ClinVarPMID:10327206 more ...
PSEN1HumanAlzheimer's disease 3  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer disease 3ClinVarPMID:10327206 more ...
PSEN1HumanAlzheimer's disease 3  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ALZHEIMER DISEASE more ...ClinVarPMID:25741868 more ...
PSEN1HumanAlzheimer's disease 3  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer disease 3ClinVarPMID:17412506 more ...
PSEN1HumanAlzheimer's disease 3  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer disease 3ClinVarPMID:10468510 more ...
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Original Reference(s)
PSEN1HumanAlzheimer's disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:7596406 more ...
PSEN1HumanAlzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
PSEN1HumanAmyloid Neuropathies  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:27567873
PSEN1HumanAmyloid Plaques  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:33096116
PSEN1Humanamyloidosis  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:23541064
PSEN1HumanAnimal Disease Models  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:16651627 and PMID:27567873
PSEN1Humanasphyxia neonatorum  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:17963755
PSEN1Humancardiomyopathy  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:29068127
PSEN1Humancognitive disorder  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:26945731
PSEN1Humandilated cardiomyopathy  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:17186461
PSEN1Humandilated cardiomyopathy 1U  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
PSEN1HumanFamilial Hidradenitis Suppurativa  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:20929727
PSEN1Humanfrontotemporal dementia  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:11094121
PSEN1HumanGliosis  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:27567873
PSEN1Humanlearning disability  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:25213453
PSEN1HumanMemory Disorders  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:25213453 more ...
PSEN1HumanNerve Degeneration  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:19522546 and PMID:33971107
PSEN1Humanneurodegenerative disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:23541064
PSEN1HumanPick's disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:15122701 and PMID:15622541
PSEN1HumanSplenomegaly  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:27117003
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Original Reference(s)
PSEN1Humancerebral amyloid angiopathy  IEA 1331525 GAD 
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PSEN1HumanAlzheimer's disease  ISSPsen1 (Mus musculus)13592920 MouseDO 
PSEN1HumanAlzheimer's disease 3  ISSPsen1 (Mus musculus)13592920OMIM:607822MouseDO 
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Original Reference(s)
PSEN1HumanAlzheimer's disease 3  IAGP 7240710 OMIM 
PSEN1Humandilated cardiomyopathy 1U  IAGP 7240710 OMIM 
PSEN1HumanFamilial Acne Inversa 3  IAGP 7240710 OMIM 
PSEN1Humanfrontotemporal dementia  IAGP 7240710 OMIM 
PSEN1HumanPick's disease  IAGP 7240710 OMIM 

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Original Reference(s)
PSEN1Human(R)-lipoic acid multiple interactionsISOPsen1 (Rattus norvegicus)6480464Thioctic Acid inhibits the reaction [amyloid beta-protein (25-35) results in increased expression of PSEN1 protein]CTDPMID:34133789
PSEN1Human1,2-dimethylhydrazine multiple interactionsISOPsen1 (Mus musculus)6480464[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of PSEN1 mRNACTDPMID:22206623
PSEN1Human17alpha-ethynylestradiol increases expressionISOPsen1 (Rattus norvegicus)6480464Ethinyl Estradiol results in increased expression of PSEN1 mRNACTDPMID:29097150
PSEN1Human17beta-hydroxy-5alpha-androstan-3-one increases expressionISOPsen1 (Rattus norvegicus)6480464Dihydrotestosterone results in increased expression of PSEN1 proteinCTDPMID:25461682
PSEN1Human17beta-hydroxy-5alpha-androstan-3-one multiple interactionsISOPsen1 (Rattus norvegicus)6480464Trenbolone Acetate analog inhibits the reaction [Dihydrotestosterone results in increased expression of PSEN1 protein] and trilostane inhibits the reaction [Trenbolone Acetate analog inhibits the reaction [Dihydrotestosterone results in increased expression of PSEN1 protein]]CTDPMID:25461682
PSEN1Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISOPsen1 (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of PSEN1 mRNACTDPMID:21570461
PSEN1Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISOPsen1 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in increased expression of PSEN1 mRNACTDPMID:32109520
PSEN1Human2,6-dinitrotoluene affects expressionISOPsen1 (Rattus norvegicus)64804642 and 6-dinitrotoluene affects the expression of PSEN1 mRNACTDPMID:21346803
PSEN1Human3,4-methylenedioxymethamphetamine increases expressionISOPsen1 (Mus musculus)6480464N-Methyl-3 and 4-methylenedioxyamphetamine results in increased expression of PSEN1 mRNACTDPMID:20188158
PSEN1Human4,4'-diaminodiphenylmethane increases expressionISOPsen1 (Mus musculus)64804644 and 4'-diaminodiphenylmethane results in increased expression of PSEN1 mRNACTDPMID:18648102
PSEN1Human4,4'-sulfonyldiphenol affects expressionISOPsen1 (Mus musculus)6480464bisphenol S affects the expression of PSEN1 mRNACTDPMID:39298647
PSEN1Human4,4'-sulfonyldiphenol affects methylationISOPsen1 (Mus musculus)6480464bisphenol S affects the methylation of PSEN1 geneCTDPMID:31683443
PSEN1Human4,4'-sulfonyldiphenol decreases methylationISOPsen1 (Mus musculus)6480464bisphenol S results in decreased methylation of PSEN1 exonCTDPMID:33297965
PSEN1Human5-(beta-D-galactosyloxy)-L-lysine multiple interactionsISOPsen1 (Mus musculus)6480464[APP protein mutant form co-treated with PSEN1 protein mutant form] results in decreased abundance of galactosylhydroxylysine and PF-06840003 inhibits the reaction [[APP protein mutant form co-treated with PSEN1 protein mutant form] results in decreased abundance of galactosylhydroxylysine]CTDPMID:39172838
PSEN1Human5-azacytidine decreases methylationISOPsen1 (Mus musculus)6480464Azacitidine results in decreased methylation of PSEN1 promoterCTDPMID:19635394
PSEN1Human5-azacytidine multiple interactionsISOPsen1 (Mus musculus)6480464Betaine inhibits the reaction [Azacitidine results in decreased methylation of PSEN1 promoter]CTDPMID:19635394
PSEN1Human6-propyl-2-thiouracil decreases expressionISOPsen1 (Rattus norvegicus)6480464Propylthiouracil results in decreased expression of PSEN1 mRNACTDPMID:24780913 and PMID:33150595
PSEN1Human6-propyl-2-thiouracil increases methylationISOPsen1 (Rattus norvegicus)6480464Propylthiouracil results in increased methylation of PSEN1 promoterCTDPMID:33150595
PSEN1Human7,9-dihydro-1H-purine-2,6,8(3H)-trione multiple interactionsISOPsen1 (Mus musculus)6480464[APP protein mutant form co-treated with PSEN1 protein mutant form] results in decreased abundance of Uric Acid and PF-06840003 inhibits the reaction [[APP protein mutant form co-treated with PSEN1 protein mutant form] results in decreased abundance of Uric Acid]CTDPMID:39172838
PSEN1Humanacetamide decreases expressionISOPsen1 (Rattus norvegicus)6480464acetamide results in decreased expression of PSEN1 mRNACTDPMID:31881176

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Biological Process
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Original Reference(s)
PSEN1Humanamyloid precursor protein catabolic process involved_inIGIUniProtKB:P05067150520179 PMID:12763021ARUK-UCLPMID:12763021
PSEN1Humanamyloid precursor protein catabolic process acts_upstream_of_or_withinIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humanamyloid precursor protein catabolic process involved_inIDA 150520179 PMID:27608597ARUK-UCLPMID:27608597
PSEN1Humanamyloid precursor protein catabolic process involved_inTAS 150520179 PMID:15274632HGNC-UCLPMID:15274632
PSEN1Humanamyloid precursor protein catabolic process involved_inIMP 150520179 PMID:12297508ARUK-UCLPMID:12297508
PSEN1Humanamyloid precursor protein catabolic process involved_inIEAInterPro:IPR002031150520179 InterProGO_REF:0000002
PSEN1Humanamyloid precursor protein metabolic process involved_inIDA 150520179 PMID:26280335UniProtPMID:26280335
PSEN1Humanamyloid-beta formation involved_inIDA 150520179 PMID:27608597ARUK-UCLPMID:27608597
PSEN1Humanamyloid-beta formation acts_upstream_of_or_withinIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humanamyloid-beta formation involved_inIBAFB:FBgn0284421 more ...150520179 GO_CentralGO_REF:0000033
PSEN1Humanamyloid-beta formation involved_inIMP 150520179 PMID:12297508 and PMID:26280335ARUK-UCLPMID:12297508 and PMID:26280335
PSEN1Humanamyloid-beta formation involved_inIGIUniProtKB:P05067150520179 PMID:12763021ARUK-UCLPMID:12763021
PSEN1Humanamyloid-beta metabolic process acts_upstream_of_or_withinIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humanapoptotic process involved_inIEAUniProtKB-KW:KW-0053150520179 UniProtGO_REF:0000043
PSEN1Humanapoptotic signaling pathway acts_upstream_ofIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humanastrocyte activation involved_inIGIUniProtKB:P05067150520179 PMID:20445063ARUK-UCLPMID:20445063
PSEN1Humanastrocyte activation involved in immune response involved_inIGIUniProtKB:A0A0R4J0I9 and UniProtKB:P05067150520179 PMID:23152628ARUK-UCLPMID:23152628
PSEN1Humanautophagosome assembly acts_upstream_of_or_withinIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humanautophagy acts_upstream_of_or_withinIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humanblood vessel development acts_upstream_of_or_withinIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
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Cellular Component
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Original Reference(s)
PSEN1Humanaggresome located_inIDA 150520179 PMID:21143716UniProtPMID:21143716
PSEN1Humanaxon located_inIEAUniProtKB-SubCell:SL-0279150520179 UniProtGO_REF:0000044
PSEN1Humanaxon located_inIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humanazurophil granule membrane located_inTAS 150520179 ReactomeReactome:R-HSA-6798739
PSEN1Humancell cortex located_inIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humancell junction located_inIDA 150520179 HPAGO_REF:0000052
PSEN1Humancell projection located_inIEAUniProtKB-KW:KW-0966150520179 UniProtGO_REF:0000043
PSEN1Humancell surface  ISOPsen1 (Rattus norvegicus)9068941 RGDPMID:11570818 and REF_RGD_ID:1304229
PSEN1Humancell surface located_inIEAUniProtKB:P97887 and ensembl:ENSRNOP00000012495150520179 EnsemblGO_REF:0000107
PSEN1Humancentrosome located_inIDA 150520179 PMID:9298903UniProtPMID:9298903
PSEN1Humanciliary rootlet located_inIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humancytoplasm located_inIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humancytoplasmic vesicle located_inIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humandendrite is_active_inIDA 150520179 PMID:24012003ARUK-UCLPMID:24012003
PSEN1Humandendrite located_inIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humandendritic shaft located_inIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humanearly endosome  ISOPsen1 (Rattus norvegicus)9068941 RGDPMID:20126630 and REF_RGD_ID:13702254
PSEN1Humanearly endosome located_inIEAUniProtKB-SubCell:SL-0094150520179 UniProtGO_REF:0000044
PSEN1Humanearly endosome located_inIEAUniProtKB:P97887 and ensembl:ENSRNOP00000012495150520179 EnsemblGO_REF:0000107
PSEN1Humanearly endosome membrane located_inIEAUniProtKB-SubCell:SL-0093150520179 UniProtGO_REF:0000044
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Molecular Function
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PSEN1Humanaspartic endopeptidase activity, intramembrane cleaving enablesIMP 150520179 PMID:17428795UniProtPMID:17428795
PSEN1Humanaspartic endopeptidase activity, intramembrane cleaving contributes_toIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humanaspartic endopeptidase activity, intramembrane cleaving enablesIBAMGI:109284 more ...150520179 GO_CentralGO_REF:0000033
PSEN1Humanaspartic endopeptidase activity, intramembrane cleaving enablesIEAInterPro:IPR001108 more ...150520179 InterProGO_REF:0000002
PSEN1Humanaspartic endopeptidase activity, intramembrane cleaving enablesIDA 150520179 PMID:26280335UniProtPMID:26280335
PSEN1Humanaspartic-type endopeptidase activity enablesIEAUniRule:UR000048417150520179 UniProtGO_REF:0000104
PSEN1Humanaspartic-type endopeptidase activity enablesIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humanaspartic-type endopeptidase activity enablesNAS 150520179 PMID:24217950ARUK-UCLPMID:24217950
PSEN1HumanATPase binding enablesIPIUniProtKB:O75110150520179 PMID:26094765ARUK-UCLPMID:26094765
PSEN1Humanbeta-catenin binding enablesIPIUniProtKB:P35222150520179 PMID:9632714UniProtPMID:9632714
PSEN1Humancadherin binding enablesIEAUniProtKB:P49769 and ensembl:ENSMUSP00000098786150520179 EnsemblGO_REF:0000107
PSEN1Humancalcium channel activity enablesIMP 150520179 PMID:16959576UniProtPMID:16959576
PSEN1Humanendopeptidase activity  ISOPsen1 (Rattus norvegicus)9068941 RGDPMID:15456764 and REF_RGD_ID:1358417
PSEN1Humanendopeptidase activity enablesIEAUniProtKB:P49769 more ...150520179 EnsemblGO_REF:0000107
PSEN1Humanendopeptidase activity enablesIMP 150520179 PMID:12297508ARUK-UCLPMID:12297508
PSEN1Humanendopeptidase activity enablesIGIUniProtKB:P05067150520179 PMID:12763021ARUK-UCLPMID:12763021
PSEN1Humanendopeptidase activity enablesIDA 150520179 PMID:8755489MGIPMID:8755489
PSEN1Humangrowth factor receptor binding enablesIPIUniProtKB:Q16620150520179 PMID:26094765ARUK-UCLPMID:26094765
PSEN1Humanhydrolase activity enablesIEAUniProtKB-KW:KW-0378150520179 UniProtGO_REF:0000043
PSEN1HumanPDZ domain binding enablesIPIUniProtKB:Q9NZJ7150520179 PMID:10551805UniProtPMID:10551805
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RGD Manual Annotations


  
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PSEN1HumanNotch signaling pathway   TAS 1334462 RGD 
PSEN1HumanNotch signaling pathway   TAS 2302204 RGD 

Imported Annotations - KEGG (archival)

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Original Reference(s)
PSEN1HumanAlzheimer's disease pathway   IEA 6907045 KEGGhsa:05010
PSEN1Humanneurotrophic factor signaling pathway  IEA 6907045 KEGGhsa:04722
PSEN1HumanNotch signaling pathway   IEA 6907045 KEGGhsa:04330
PSEN1HumanWnt signaling pathway  IEA 6907045 KEGGhsa:04310

Imported Annotations - PID (archival)

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Original Reference(s)
PSEN1HumanNotch signaling pathway   EXP 6484113 PIDPID:200015
PSEN1Humansyndecan signaling pathway  EXP 6484113 PIDPID:200198
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Original Reference(s)
PSEN1HumanAbnormal brain FDG positron emission tomography  IAGP 8699517 HPOORPHA:275864
PSEN1HumanAbnormal brain FDG positron emission tomography  IAGP 8699517 HPOORPHA:100070
PSEN1HumanAbnormal cerebral white matter morphology  IAGP 8699517 HPOORPHA:275864
PSEN1HumanAbnormal cerebral white matter morphology  IAGP 8699517 HPOORPHA:100070
PSEN1HumanAbnormal diminished volition  IAGP 8699517 HPOMIM:600274
PSEN1HumanAbnormal diminished volition  IAGP 8699517 HPOMIM:172700
PSEN1HumanAbnormal lower motor neuron morphology  IAGP 8699517 HPOORPHA:100070
PSEN1HumanAbnormal sexual behavior  IAGP 8699517 HPOMIM:600274
PSEN1HumanAbnormal social behavior  IAGP 8699517 HPOORPHA:1020
PSEN1HumanAbnormal speech pattern  IAGP 8699517 HPOORPHA:100069
PSEN1HumanAbnormality of extrapyramidal motor function  IAGP 8699517 HPOMIM:607822
PSEN1HumanAbnormality of extrapyramidal motor function  IAGP 8699517 HPOORPHA:100070
PSEN1HumanAbnormality of extrapyramidal motor function  IAGP 8699517 HPOORPHA:275864
PSEN1HumanAbnormality of mental function  IAGP 8699517 HPOORPHA:1020
PSEN1HumanAbnormality of vision  IAGP 8699517 HPOORPHA:1020
PSEN1HumanAbulia  IAGP 8699517 HPOORPHA:100069
PSEN1HumanAbulia  IAGP 8699517 HPOORPHA:275864
PSEN1HumanAcne inversa  IAGP 8699517 HPOMIM:613737
PSEN1HumanAdult onset  IAGP 8699517 HPOMIM:607822
PSEN1HumanAggressive behavior  IAGP 8699517 HPOORPHA:275864
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1 to 20 of 252 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PSEN1HumanAbnormality of the nervous system  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormality of the nervous systemClinVarPMID:25741868 and PMID:9172170
PSEN1HumanAlzheimer disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:11524469 more ...
PSEN1HumanAlzheimer disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:11524469 more ...
PSEN1HumanAlzheimer disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:10075646 more ...
PSEN1HumanAlzheimer disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:10643802 more ...
PSEN1HumanAlzheimer disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:30279455
PSEN1HumanAlzheimer disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:30279455
PSEN1HumanAlzheimer disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:30279455
PSEN1HumanAlzheimer disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:30279455
PSEN1HumanAlzheimer disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Alzheimer diseaseClinVarPMID:25741868 and PMID:30279455
PSEN1HumanCongestive heart failure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Heart failureClinVarPMID:17186461 more ...
PSEN1HumanDementia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: DementiaClinVarPMID:10327206 more ...
PSEN1HumanFrontotemporal dementia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Frontotemporal dementiaClinVarPMID:28492532
PSEN1HumanFrontotemporal dementia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Frontotemporal dementiaClinVarPMID:11524469 more ...
PSEN1HumanFrontotemporal dementia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Frontotemporal dementiaClinVarPMID:25741868 more ...
PSEN1HumanFrontotemporal dementia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Frontotemporal dementiaClinVarPMID:10441572 more ...
PSEN1HumanFrontotemporal dementia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Frontotemporal dementiaClinVarPMID:10327206 more ...
PSEN1HumanFrontotemporal dementia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Frontotemporal dementiaClinVarPMID:15004326 more ...
PSEN1HumanFrontotemporal dementia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Frontotemporal dementiaClinVarPMID:11389157 more ...
PSEN1HumanFrontotemporal dementia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Frontotemporal dementiaClinVarPMID:10468510 more ...
1 to 20 of 252 rows

1 to 17 of 17 rows
#
Reference Title
Reference Citation
1. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Developmental regulation and possible alternative cleavage of presenilin 1 in the rat retina. Bresciani LG, etal., Mol Cell Neurosci 2002 Oct;21(2):239-49.
3. Cell and molecular biology of Notch. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. Memory deficiency, cerebral amyloid angiopathy, and amyloid-ß plaques in APP+PS1 double transgenic rat model of Alzheimer's disease. Klakotskaia D, etal., PLoS One. 2018 Apr 11;13(4):e0195469. doi: 10.1371/journal.pone.0195469. eCollection 2018.
7. Increased expression of the gamma-secretase components presenilin-1 and nicastrin in activated astrocytes and microglia following traumatic brain injury. Nadler Y, etal., Glia. 2008 Apr;56(5):552-67. doi: 10.1002/glia.20638.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Regulation of notch signaling activity. Schweisguth F, Curr Biol. 2004 Feb 3;14(3):R129-38.
15. Skeletal and CNS defects in Presenilin-1-deficient mice. Shen J, etal., Cell 1997 May 16;89(4):629-39.
16. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Sherrington R, etal., Nature 1995 Jun 29;375(6534):754-60.
17. Selective expression of presenilin 1 in neural progenitor cells rescues the cerebral hemorrhages and cortical lamination defects in presenilin 1-null mutant mice. Wen PH, etal., Development. 2005 Sep;132(17):3873-83. Epub 2005 Aug 3.
1 to 17 of 17 rows
1 to 10 of 73 rows
PMID:1303289   PMID:1349467   PMID:1411576   PMID:7550356   PMID:7623584   PMID:7651536   PMID:8125298   PMID:8574969   PMID:8634711   PMID:8634712   PMID:8641442   PMID:8733303  
PMID:8742474   PMID:8755489   PMID:8804415   PMID:8837617   PMID:8875251   PMID:8878479   PMID:8922407   PMID:8931704   PMID:9007311   PMID:9013610   PMID:9052708   PMID:9070286  
PMID:9073509   PMID:9144240   PMID:9172170   PMID:9173929   PMID:9223106   PMID:9223340   PMID:9225696   PMID:9246482   PMID:9298817   PMID:9298903   PMID:9384602   PMID:9436726  
PMID:9437013   PMID:9443865   PMID:9452432   PMID:9485372   PMID:9507958   PMID:9521418   PMID:9521423   PMID:9544835   PMID:9632714   PMID:9689133   PMID:9712537   PMID:9719376  
PMID:9738936   PMID:9771752   PMID:9831473   PMID:9833068   PMID:9851443   PMID:9851450   PMID:9852041   PMID:9915968   PMID:10025789   PMID:10037471   PMID:10069390   PMID:10077672  
PMID:10090481   PMID:10092585   PMID:10200054   PMID:10206644   PMID:10206645   PMID:10208579   PMID:10208590   PMID:10341227   PMID:10366599   PMID:10369872   PMID:10401002   PMID:10439444  
PMID:10441572   PMID:10446169   PMID:10447269   PMID:10508860   PMID:10521466   PMID:10527805   PMID:10533070   PMID:10545183   PMID:10551805   PMID:10587643   PMID:10593990   PMID:10631141  
PMID:10635315   PMID:10801777   PMID:10801983   PMID:10805794   PMID:10811883   PMID:10854253   PMID:10891589   PMID:10899933   PMID:10993067   PMID:10997338   PMID:11027672   PMID:11030797  
PMID:11076969   PMID:11083918   PMID:11094121   PMID:11104755   PMID:11110974   PMID:11129109   PMID:11140838   PMID:11168528   PMID:11193155   PMID:11200686   PMID:11226248   PMID:11389157  
PMID:11436125   PMID:11444983   PMID:11504726   PMID:11518718   PMID:11524469   PMID:11568920   PMID:11710891   PMID:11719200   PMID:11738826   PMID:11744687   PMID:11755019   PMID:11757955  
1 to 10 of 73 rows



PSEN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381473,136,417 - 73,223,691 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1473,136,418 - 73,223,691 (+)EnsemblGRCh38hg38GRCh38
GRCh371473,603,215 - 73,690,399 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361472,672,932 - 72,756,862 (+)NCBINCBI36Build 36hg18NCBI36
Build 341472,684,480 - 72,755,750NCBI
Celera1453,666,429 - 53,753,632 (+)NCBICelera
Cytogenetic Map14q24.2NCBI
HuRef1453,768,824 - 53,855,913 (+)NCBIHuRef
CHM1_11473,542,049 - 73,629,540 (+)NCBICHM1_1
T2T-CHM13v2.01467,341,963 - 67,429,152 (+)NCBIT2T-CHM13v2.0
Psen1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391283,734,926 - 83,781,869 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1283,734,926 - 83,781,973 (+)EnsemblGRCm39 Ensembl
GRCm381283,688,152 - 83,735,095 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1283,688,152 - 83,735,199 (+)EnsemblGRCm38mm10GRCm38
MGSCv371285,029,513 - 85,076,149 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361284,578,311 - 84,624,947 (+)NCBIMGSCv36mm8
Celera1285,135,054 - 85,181,689 (+)NCBICelera
Cytogenetic Map12D1NCBI
cM Map1238.84NCBI
Psen1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86109,054,160 - 109,106,191 (+)NCBIGRCr8
mRatBN7.26103,323,052 - 103,375,088 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6103,323,120 - 103,371,650 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6103,495,949 - 103,532,337 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06103,795,166 - 103,831,556 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06103,164,639 - 103,201,021 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06107,169,514 - 107,221,000 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6107,169,528 - 107,216,798 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06118,324,910 - 118,373,090 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46107,737,543 - 107,776,357 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16107,729,188 - 107,781,021 (+)NCBI
Celera6101,163,513 - 101,199,486 (+)NCBICelera
Cytogenetic Map6q31NCBI
Psen1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555232,128,529 - 2,210,737 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555232,128,529 - 2,210,737 (-)NCBIChiLan1.0ChiLan1.0
PSEN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21574,248,985 - 74,330,085 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11473,465,369 - 73,549,888 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01453,718,299 - 53,802,684 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11472,579,024 - 72,663,876 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1472,579,024 - 72,663,876 (+)Ensemblpanpan1.1panPan2
PSEN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1846,495,551 - 46,569,532 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl846,495,624 - 46,569,532 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha846,188,004 - 46,253,311 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0846,719,986 - 46,800,157 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl846,720,051 - 46,800,135 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1846,399,068 - 46,464,638 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0846,414,872 - 46,480,438 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0846,805,794 - 46,871,397 (+)NCBIUU_Cfam_GSD_1.0
Psen1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864029,540,161 - 29,604,355 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364882,464,527 - 2,530,065 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364882,464,623 - 2,528,807 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSEN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl796,478,190 - 96,569,130 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1796,478,179 - 96,567,884 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27102,265,830 - 102,360,301 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap7q12-q26NCBI
PSEN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12450,394,310 - 50,476,521 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2450,405,590 - 50,472,132 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605338,577,780 - 38,659,678 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psen1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473428,200,140 - 28,272,743 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473428,200,358 - 28,272,684 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in PSEN1
523 total Variants

1 to 10 of 582 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_000021.4(PSEN1):c.823G>C (p.Ala275Pro) single nucleotide variant not specified [RCV000518734] Chr14:73198084 [GRCh38]
Chr14:73664792 [GRCh37]
Chr14:14q24.2		 uncertain significance
NM_000021.4(PSEN1):c.714C>G (p.Ile238Met) single nucleotide variant not provided [RCV000518834] Chr14:73192809 [GRCh38]
Chr14:73659517 [GRCh37]
Chr14:14q24.2		 likely pathogenic
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) single nucleotide variant Alzheimer disease 3 [RCV000020085]|Pick disease [RCV000019779]|not provided [RCV000084335] Chr14:73186920 [GRCh38]
Chr14:73653628 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln) single nucleotide variant Alzheimer disease 3 [RCV000019780]|not provided [RCV000084580] Chr14:73219192 [GRCh38]
Chr14:73685900 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
PSEN1, 6-BP INS, NT715 insertion Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques [RCV000019781] Chr14:14q24.3 pathogenic
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) single nucleotide variant Alzheimer disease 3 [RCV000019782]|Alzheimer disease 3 [RCV002513126]|not provided [RCV000084379] Chr14:73198094 [GRCh38]
Chr14:73664802 [GRCh37]
Chr14:14q24.2		 pathogenic|not provided
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) single nucleotide variant Alzheimer disease, familial, 3, with spastic paraparesis and apraxia [RCV000019783]|not provided [RCV000084284] Chr14:73170963 [GRCh38]
Chr14:73637671 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic|not provided
PSEN1, 3-BP DEL deletion Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques [RCV000019784] Chr14:14q24.3 pathogenic
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) single nucleotide variant Alzheimer disease 3 [RCV000019785]|Alzheimer disease 3 [RCV000640606]|Alzheimer disease 3 [RCV005003398]|not provided [RCV000517533] Chr14:73219177 [GRCh38]
Chr14:73685885 [GRCh37]
Chr14:14q24.2		 pathogenic|likely pathogenic
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) single nucleotide variant Alzheimer disease 3 [RCV000877625]|Dilated cardiomyopathy 1U [RCV000019786]|Primary dilated cardiomyopathy [RCV000171844] Chr14:73211811 [GRCh38]
Chr14:73678519 [GRCh37]
Chr14:72748272 [NCBI36]
Chr14:14q24.2		 pathogenic|likely pathogenic|likely benign|uncertain significance
1 to 10 of 582 rows

Predicted Target Of
Summary Value
Count of predictions:6756
Count of miRNA genes:1320
Interacting mature miRNAs:1694
Transcripts:ENST00000261970, ENST00000324501, ENST00000344094, ENST00000357710, ENST00000394157, ENST00000394164, ENST00000406768, ENST00000553447, ENST00000553599, ENST00000553719, ENST00000553855, ENST00000554131, ENST00000554995, ENST00000555254, ENST00000555386, ENST00000555867, ENST00000556011, ENST00000556066, ENST00000556533, ENST00000556864, ENST00000556951, ENST00000557037, ENST00000557293, ENST00000557356, ENST00000557511, ENST00000559361, ENST00000560005
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


1 to 10 of 11 rows
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
596977095GWAS1096614_HRed cell distribution width QTL GWAS1096614 (human)4e-15Red cell distribution width147320249873202499Human
597207355GWAS1303429_Hmathematical ability QTL GWAS1303429 (human)1e-08mathematical ability147319142973191430Human
597368957GWAS1465031_Hapolipoprotein B measurement QTL GWAS1465031 (human)1e-08apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)147314938773149388Human
597416668GWAS1512742_Hrenal carcinoma QTL GWAS1512742 (human)5e-09renal carcinoma147320775073207751Human
407052443GWAS701419_Htyrosine measurement QTL GWAS701419 (human)0.000001tyrosine measurement147318046673180467Human
597111727GWAS1207801_HRed cell distribution width QTL GWAS1207801 (human)4e-15Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)147320249873202499Human
597455638GWAS1551712_HHbA1c measurement QTL GWAS1551712 (human)4e-11HbA1c measurementblood hemoglobin A1c level (CMO:0002786)147314938773149388Human
597421200GWAS1517274_Hcognitive function measurement QTL GWAS1517274 (human)2e-09cognitive behavior trait (VT:0010450)147313878773138788Human
597614965GWAS1671825_HRed cell distribution width QTL GWAS1671825 (human)6e-20Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)147320775073207751Human
597612962GWAS1669822_HRed cell distribution width QTL GWAS1669822 (human)1e-14Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)147320775073207751Human

1 to 10 of 11 rows
D14S43  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,943,685 - 74,943,869UniSTSGRCh37
Build 361474,013,438 - 74,013,622RGDNCBI36
Celera1454,982,072 - 54,982,256RGD
Cytogenetic Map14q24.3UniSTS
HuRef1455,112,163 - 55,112,321UniSTS
Marshfield Genetic Map1484.16UniSTS
Marshfield Genetic Map1484.16RGD
Whitehead-YAC Contig Map14 UniSTS
G38136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,613,349 - 73,613,545UniSTSGRCh37
Build 361472,683,102 - 72,683,298RGDNCBI36
Celera1453,676,631 - 53,676,827RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,779,025 - 53,779,221UniSTS
G38218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,618,035 - 73,618,231UniSTSGRCh37
Build 361472,687,788 - 72,687,984RGDNCBI36
Celera1453,681,316 - 53,681,512RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,783,711 - 53,783,907UniSTS
G38175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,635,316 - 73,635,574UniSTSGRCh37
Build 361472,705,069 - 72,705,327RGDNCBI36
Celera1453,698,595 - 53,698,853RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,801,074 - 53,801,332UniSTS
G38215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,611,092 - 73,611,344UniSTSGRCh37
Build 361472,680,845 - 72,681,097RGDNCBI36
Celera1453,674,374 - 53,674,626RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,776,769 - 53,777,021UniSTS
G38068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,616,490 - 73,616,740UniSTSGRCh37
Build 361472,686,243 - 72,686,493RGDNCBI36
Celera1453,679,772 - 53,680,022RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,782,167 - 53,782,417UniSTS
SHGC-78932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,639,753 - 73,640,052UniSTSGRCh37
Build 361472,709,506 - 72,709,805RGDNCBI36
Celera1453,703,032 - 53,703,331RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,805,511 - 53,805,810UniSTS
D14S1438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,640,288 - 73,640,468UniSTSGRCh37
Build 361472,710,041 - 72,710,221RGDNCBI36
Celera1453,703,567 - 53,703,747RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,806,046 - 53,806,226UniSTS
D14S1439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,653,502 - 73,653,730UniSTSGRCh37
Build 361472,723,255 - 72,723,483RGDNCBI36
Celera1453,716,733 - 53,716,961RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,818,953 - 53,819,181UniSTS
D14S1440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,659,462 - 73,659,565UniSTSGRCh37
Build 361472,729,215 - 72,729,318RGDNCBI36
Celera1453,722,693 - 53,722,796RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,824,913 - 53,825,016UniSTS
D14S1442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,683,907 - 73,684,122UniSTSGRCh37
Build 361472,753,660 - 72,753,875RGDNCBI36
Celera1453,747,138 - 53,747,353RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,849,419 - 53,849,634UniSTS
D14S1264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,655,166 - 73,655,266UniSTSGRCh37
Build 361472,724,919 - 72,725,019RGDNCBI36
Celera1453,718,397 - 53,718,497RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,820,617 - 53,820,717UniSTS
G38220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,635,503 - 73,635,664UniSTSGRCh37
GRCh37532,978,411 - 32,978,643UniSTSGRCh37
Build 36533,014,168 - 33,014,400RGDNCBI36
Celera1453,698,782 - 53,698,943UniSTS
Celera532,860,015 - 32,860,247RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,801,261 - 53,801,422UniSTS
HuRef532,947,631 - 32,947,863UniSTS
G38066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,680,145 - 73,680,345UniSTSGRCh37
Build 361472,749,898 - 72,750,098RGDNCBI36
Celera1453,743,376 - 53,743,576RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,845,657 - 53,845,857UniSTS
SHGC-132632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,690,075 - 73,690,365UniSTSGRCh37
Build 361472,759,828 - 72,760,118RGDNCBI36
Celera1453,753,308 - 53,753,598RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,855,589 - 53,855,879UniSTS
TNG Radiation Hybrid Map1426432.0UniSTS
PSEN1_232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,686,255 - 73,687,100UniSTSGRCh37
Build 361472,756,008 - 72,756,853RGDNCBI36
Celera1453,749,488 - 53,750,333RGD
HuRef1453,851,769 - 53,852,614UniSTS
SHGC-36769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,690,246 - 73,690,377UniSTSGRCh37
Build 361472,759,999 - 72,760,130RGDNCBI36
Celera1453,753,479 - 53,753,610RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,855,760 - 53,855,891UniSTS
GeneMap99-G3 RH Map142702.0UniSTS
G35565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,646,397 - 73,646,577UniSTSGRCh37
Build 361472,716,150 - 72,716,330RGDNCBI36
Celera1453,709,676 - 53,709,856RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,812,155 - 53,812,335UniSTS
SHGC-31609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,686,086 - 73,686,287UniSTSGRCh37
Build 361472,755,839 - 72,756,040RGDNCBI36
Celera1453,749,319 - 53,749,520RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,851,600 - 53,851,801UniSTS
TNG Radiation Hybrid Map1426432.0UniSTS
Stanford-G3 RH Map142660.0UniSTS
GeneMap99-GB4 RH Map14191.19UniSTS
Whitehead-RH Map14258.8UniSTS
NCBI RH Map14771.7UniSTS
GeneMap99-G3 RH Map142708.0UniSTS
G38198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,645,908 - 73,646,009UniSTSGRCh37
Build 361472,715,661 - 72,715,762RGDNCBI36
Celera1453,709,187 - 53,709,288RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,811,666 - 53,811,767UniSTS
G35665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,623,230 - 73,623,326UniSTSGRCh37
Build 361472,692,983 - 72,693,079RGDNCBI36
Celera1453,686,511 - 53,686,607RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,788,993 - 53,789,089UniSTS
G38129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,604,805 - 73,604,885UniSTSGRCh37
Build 361472,674,558 - 72,674,638RGDNCBI36
Celera1453,668,091 - 53,668,171RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,770,486 - 53,770,566UniSTS
G38324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,613,222 - 73,613,379UniSTSGRCh37
Build 361472,682,975 - 72,683,132RGDNCBI36
Celera1453,676,504 - 53,676,661RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,778,898 - 53,779,055UniSTS
G35501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,649,700 - 73,649,823UniSTSGRCh37
Build 361472,719,453 - 72,719,576RGDNCBI36
Celera1453,712,979 - 53,713,102RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,815,458 - 53,815,581UniSTS
WI-11404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,679,948 - 73,680,097UniSTSGRCh37
Build 361472,749,701 - 72,749,850RGDNCBI36
Celera1453,743,179 - 53,743,328RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,845,460 - 53,845,609UniSTS
GeneMap99-GB4 RH Map14189.67UniSTS
Whitehead-RH Map14259.0UniSTS
NCBI RH Map14818.9UniSTS
G38176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,608,298 - 73,608,454UniSTSGRCh37
Build 361472,678,051 - 72,678,207RGDNCBI36
Celera1453,671,580 - 53,671,736RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,773,975 - 53,774,131UniSTS
A005E05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,690,147 - 73,690,287UniSTSGRCh37
Build 361472,759,900 - 72,760,040RGDNCBI36
Celera1453,753,380 - 53,753,520RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,855,661 - 53,855,801UniSTS
GeneMap99-GB4 RH Map14191.19UniSTS
Whitehead-RH Map14258.8UniSTS
RH77790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,654,231 - 73,654,380UniSTSGRCh37
Build 361472,723,984 - 72,724,133RGDNCBI36
Celera1453,717,462 - 53,717,611RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,819,682 - 53,819,831UniSTS
GeneMap99-GB4 RH Map14187.83UniSTS
NCBI RH Map14803.2UniSTS
SGC34362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,654,356 - 73,654,455UniSTSGRCh37
Build 361472,724,109 - 72,724,208RGDNCBI36
Celera1453,717,587 - 53,717,686RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,819,807 - 53,819,906UniSTS
GeneMap99-GB4 RH Map14183.36UniSTS
Whitehead-RH Map14257.6UniSTS
NCBI RH Map14816.7UniSTS
G38323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,689,786 - 73,690,054UniSTSGRCh37
Build 361472,759,539 - 72,759,807RGDNCBI36
Celera1453,753,019 - 53,753,287RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,855,300 - 53,855,568UniSTS
G38182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,627,985 - 73,628,134UniSTSGRCh37
Build 361472,697,738 - 72,697,887RGDNCBI36
Celera1453,691,267 - 53,691,416RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,793,744 - 53,793,893UniSTS
G38272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,680,897 - 73,681,062UniSTSGRCh37
Build 361472,750,650 - 72,750,815RGDNCBI36
Celera1453,744,128 - 53,744,293RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,846,409 - 53,846,574UniSTS
G38184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,687,932 - 73,688,181UniSTSGRCh37
Build 361472,757,685 - 72,757,934RGDNCBI36
Celera1453,751,165 - 53,751,414RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,853,446 - 53,853,695UniSTS
G38203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,625,964 - 73,626,131UniSTSGRCh37
Build 361472,695,717 - 72,695,884RGDNCBI36
Celera1453,689,245 - 53,689,412RGD
Cytogenetic Map14q24.3UniSTS
HuRef1453,791,722 - 53,791,889UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
G38133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,604,656 - 73,605,807UniSTSGRCh37
Celera1453,667,942 - 53,669,089UniSTS
Cytogenetic Map14q24.3UniSTS
HuRef1453,770,337 - 53,771,485UniSTS




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 61 rows
RefSeq Transcripts NG_007386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB159776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF029701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF109907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF416717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ008005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 61 rows

Ensembl Acc Id: ENST00000324501   ⟹   ENSP00000326366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,691 (+)Ensembl
Ensembl Acc Id: ENST00000357710   ⟹   ENSP00000350342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,447 - 73,220,401 (+)Ensembl
Ensembl Acc Id: ENST00000394157   ⟹   ENSP00000377712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,447 - 73,174,204 (+)Ensembl
Ensembl Acc Id: ENST00000394164   ⟹   ENSP00000377719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,817 - 73,220,401 (+)Ensembl
Ensembl Acc Id: ENST00000406768   ⟹   ENSP00000385948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,167,829 - 73,220,401 (+)Ensembl
Ensembl Acc Id: ENST00000553447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,477 - 73,173,707 (+)Ensembl
Ensembl Acc Id: ENST00000553599   ⟹   ENSP00000452477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,445 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000553719   ⟹   ENSP00000451674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,444 - 73,173,680 (+)Ensembl
Ensembl Acc Id: ENST00000553855   ⟹   ENSP00000452242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,148,020 - 73,217,158 (+)Ensembl
Ensembl Acc Id: ENST00000554131   ⟹   ENSP00000451915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,496 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000554995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,196,512 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000555254   ⟹   ENSP00000450652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,456 - 73,173,694 (+)Ensembl
Ensembl Acc Id: ENST00000555386   ⟹   ENSP00000450845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,451 - 73,219,289 (+)Ensembl
Ensembl Acc Id: ENST00000555867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,206,153 - 73,219,396 (+)Ensembl
Ensembl Acc Id: ENST00000556011   ⟹   ENSP00000451662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,447 - 73,173,707 (+)Ensembl
Ensembl Acc Id: ENST00000556066   ⟹   ENSP00000452267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,492 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000556533   ⟹   ENSP00000452128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,435 - 73,170,998 (+)Ensembl
Ensembl Acc Id: ENST00000556864   ⟹   ENSP00000451588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,435 - 73,170,912 (+)Ensembl
Ensembl Acc Id: ENST00000556951   ⟹   ENSP00000450551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,436 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000557037   ⟹   ENSP00000451347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,541 - 73,170,909 (+)Ensembl
Ensembl Acc Id: ENST00000557293   ⟹   ENSP00000451880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,437 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000557356   ⟹   ENSP00000451498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,418 - 73,173,644 (+)Ensembl
Ensembl Acc Id: ENST00000557511   ⟹   ENSP00000451429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,148,020 - 73,219,289 (+)Ensembl
Ensembl Acc Id: ENST00000559361   ⟹   ENSP00000454156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,518 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000560005   ⟹   ENSP00000453466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,451 - 73,171,050 (+)Ensembl
Ensembl Acc Id: ENST00000697912   ⟹   ENSP00000513477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,451 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000697913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,465 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000697914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,171,923 (+)Ensembl
Ensembl Acc Id: ENST00000697915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,216,640 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000700265   ⟹   ENSP00000514901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,424 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700266   ⟹   ENSP00000514902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,427 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700267   ⟹   ENSP00000514903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,427 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700268   ⟹   ENSP00000514904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,439 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700269   ⟹   ENSP00000514905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,445 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,451 - 73,207,255 (+)Ensembl
Ensembl Acc Id: ENST00000700271   ⟹   ENSP00000514906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,451 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000700272   ⟹   ENSP00000514907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,451 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700273   ⟹   ENSP00000514908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,453 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700302   ⟹   ENSP00000514929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,453 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000700303   ⟹   ENSP00000514930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,453 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700304   ⟹   ENSP00000514931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,461 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700305   ⟹   ENSP00000514932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,461 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700306   ⟹   ENSP00000514933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,472 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700307   ⟹   ENSP00000514934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,477 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000700308   ⟹   ENSP00000514935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,487 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700309   ⟹   ENSP00000514936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,487 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700310   ⟹   ENSP00000514937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000700311   ⟹   ENSP00000514938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,677 (+)Ensembl
Ensembl Acc Id: ENST00000700312   ⟹   ENSP00000514939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700313   ⟹   ENSP00000514940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700314   ⟹   ENSP00000514941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700315   ⟹   ENSP00000514942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700316   ⟹   ENSP00000514943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700317   ⟹   ENSP00000514944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700318   ⟹   ENSP00000514945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700319   ⟹   ENSP00000514946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700320   ⟹   ENSP00000514947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700321   ⟹   ENSP00000514948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,507 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700322   ⟹   ENSP00000514949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,509 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700323   ⟹   ENSP00000514950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,509 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700324   ⟹   ENSP00000514951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,530 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,461 - 73,161,941 (+)Ensembl
Ensembl Acc Id: ENST00000700375   ⟹   ENSP00000514966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,543 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,763 - 73,193,132 (+)Ensembl
Ensembl Acc Id: ENST00000700377   ⟹   ENSP00000514967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,763 - 73,223,680 (+)Ensembl
Ensembl Acc Id: ENST00000700378   ⟹   ENSP00000514968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,763 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,143,221 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,472 - 73,193,000 (+)Ensembl
Ensembl Acc Id: ENST00000700389   ⟹   ENSP00000514970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,136,472 - 73,220,504 (+)Ensembl
Ensembl Acc Id: ENST00000700390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,146,219 - 73,223,685 (+)Ensembl
Ensembl Acc Id: ENST00000700391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,206,087 - 73,220,402 (+)Ensembl
Ensembl Acc Id: ENST00000700404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,047 - 73,223,515 (+)Ensembl
Ensembl Acc Id: ENST00000700405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,162,015 (+)Ensembl
Ensembl Acc Id: ENST00000700406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,162,016 (+)Ensembl
Ensembl Acc Id: ENST00000700407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,162,024 (+)Ensembl
Ensembl Acc Id: ENST00000700408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,163,022 (+)Ensembl
Ensembl Acc Id: ENST00000700409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,163,022 (+)Ensembl
Ensembl Acc Id: ENST00000700410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,167,866 (+)Ensembl
Ensembl Acc Id: ENST00000700430   ⟹   ENSP00000514985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,174,172 (+)Ensembl
Ensembl Acc Id: ENST00000700431   ⟹   ENSP00000514986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,174,204 (+)Ensembl
Ensembl Acc Id: ENST00000700432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,193,579 (+)Ensembl
Ensembl Acc Id: ENST00000700433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,206,850 (+)Ensembl
Ensembl Acc Id: ENST00000700434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,206,884 (+)Ensembl
Ensembl Acc Id: ENST00000700435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,213,423 (+)Ensembl
Ensembl Acc Id: ENST00000700436   ⟹   ENSP00000514987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,223,515 (+)Ensembl
Ensembl Acc Id: ENST00000700437   ⟹   ENSP00000514988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,223,547 (+)Ensembl
Ensembl Acc Id: ENST00000700467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,207,337 (+)Ensembl
Ensembl Acc Id: ENST00000700468   ⟹   ENSP00000515001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,795 - 73,223,515 (+)Ensembl
Ensembl Acc Id: ENST00000700469   ⟹   ENSP00000515002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1473,147,813 - 73,223,547 (+)Ensembl
RefSeq Acc Id: NM_000021   ⟹   NP_000012
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
GRCh371473,603,143 - 73,690,399 (+)ENTREZGENE
GRCh371473,603,143 - 73,690,399 (+)NCBI
Build 361472,672,932 - 72,756,862 (+)NCBI Archive
HuRef1453,768,824 - 53,855,913 (+)ENTREZGENE
CHM1_11473,542,049 - 73,629,540 (+)NCBI
T2T-CHM13v2.01467,342,053 - 67,429,152 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007318   ⟹   NP_015557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
GRCh371473,603,143 - 73,690,399 (+)NCBI
HuRef1453,768,824 - 53,855,913 (+)ENTREZGENE
CHM1_11473,542,049 - 73,629,540 (+)NCBI
T2T-CHM13v2.01467,342,053 - 67,429,152 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005267864   ⟹   XP_005267921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005267866   ⟹   XP_005267923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536972   ⟹   XP_011535274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536973   ⟹   XP_011535275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536974   ⟹   XP_011535276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047431600   ⟹   XP_047287556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,223,691 (+)NCBI
RefSeq Acc Id: XM_047431601   ⟹   XP_047287557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,420 - 73,223,691 (+)NCBI
RefSeq Acc Id: XM_047431602   ⟹   XP_047287558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,417 - 73,223,691 (+)NCBI
RefSeq Acc Id: XM_054376413   ⟹   XP_054232388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,981 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376414   ⟹   XP_054232389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,981 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376415   ⟹   XP_054232390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,966 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376416   ⟹   XP_054232391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,981 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376417   ⟹   XP_054232392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,981 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376418   ⟹   XP_054232393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,981 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376419   ⟹   XP_054232394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,981 - 67,429,152 (+)NCBI
RefSeq Acc Id: XM_054376420   ⟹   XP_054232395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01467,341,963 - 67,429,152 (+)NCBI
1 to 30 of 91 rows
Protein RefSeqs NP_000012 (Get FASTA)   NCBI Sequence Viewer  
  NP_015557 (Get FASTA)   NCBI Sequence Viewer  
  XP_005267921 (Get FASTA)   NCBI Sequence Viewer  
  XP_005267923 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535274 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535275 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535276 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287556 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287557 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287558 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232388 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232389 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232390 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232391 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232392 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232393 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232394 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232395 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB05894 (Get FASTA)   NCBI Sequence Viewer  
  AAB05895 (Get FASTA)   NCBI Sequence Viewer  
  AAB46370 (Get FASTA)   NCBI Sequence Viewer  
  AAB46416 (Get FASTA)   NCBI Sequence Viewer  
  AAC97960 (Get FASTA)   NCBI Sequence Viewer  
  AAF19253 (Get FASTA)   NCBI Sequence Viewer  
  AAF19254 (Get FASTA)   NCBI Sequence Viewer  
  AAH11729 (Get FASTA)   NCBI Sequence Viewer  
  AAL16811 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33743 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33744 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33745 (Get FASTA)   NCBI Sequence Viewer  
1 to 30 of 91 rows
1 to 5 of 82 rows
1 to 5 of 82 rows
RefSeq Acc Id: NP_000012   ⟸   NM_000021
- Peptide Label: isoform I-467
- UniProtKB: Q96P33 (UniProtKB/Swiss-Prot),   Q15720 (UniProtKB/Swiss-Prot),   Q15719 (UniProtKB/Swiss-Prot),   Q14762 (UniProtKB/Swiss-Prot),   O95465 (UniProtKB/Swiss-Prot),   B2R6D3 (UniProtKB/Swiss-Prot),   Q9UIF0 (UniProtKB/Swiss-Prot),   P49768 (UniProtKB/Swiss-Prot),   A0A024R6A3 (UniProtKB/TrEMBL),   A0A218KGN3 (UniProtKB/TrEMBL),   A0A218KGN4 (UniProtKB/TrEMBL),   A0A218KGN7 (UniProtKB/TrEMBL),   A0A218KGP0 (UniProtKB/TrEMBL),   A0A218KGP1 (UniProtKB/TrEMBL),   A0A218KGP3 (UniProtKB/TrEMBL),   A0A218KGQ3 (UniProtKB/TrEMBL),   A0A218KGQ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_015557   ⟸   NM_007318
- Peptide Label: isoform I-463
- UniProtKB: A0A0S2Z4D2 (UniProtKB/TrEMBL),   Q53FV8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005267923   ⟸   XM_005267866
- Peptide Label: isoform X2
- UniProtKB: A0A0S2Z4D2 (UniProtKB/TrEMBL),   Q53FV8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005267921   ⟸   XM_005267864
- Peptide Label: isoform X1
- UniProtKB: Q96P33 (UniProtKB/Swiss-Prot),   Q15720 (UniProtKB/Swiss-Prot),   Q15719 (UniProtKB/Swiss-Prot),   Q14762 (UniProtKB/Swiss-Prot),   O95465 (UniProtKB/Swiss-Prot),   B2R6D3 (UniProtKB/Swiss-Prot),   Q9UIF0 (UniProtKB/Swiss-Prot),   P49768 (UniProtKB/Swiss-Prot),   A0A024R6A3 (UniProtKB/TrEMBL),   A0A218KGN3 (UniProtKB/TrEMBL),   A0A218KGN4 (UniProtKB/TrEMBL),   A0A218KGN7 (UniProtKB/TrEMBL),   A0A218KGP0 (UniProtKB/TrEMBL),   A0A218KGP1 (UniProtKB/TrEMBL),   A0A218KGP3 (UniProtKB/TrEMBL),   A0A218KGQ3 (UniProtKB/TrEMBL),   A0A218KGQ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535274   ⟸   XM_011536972
- Peptide Label: isoform X1
- UniProtKB: Q96P33 (UniProtKB/Swiss-Prot),   Q15720 (UniProtKB/Swiss-Prot),   Q15719 (UniProtKB/Swiss-Prot),   Q14762 (UniProtKB/Swiss-Prot),   O95465 (UniProtKB/Swiss-Prot),   B2R6D3 (UniProtKB/Swiss-Prot),   Q9UIF0 (UniProtKB/Swiss-Prot),   P49768 (UniProtKB/Swiss-Prot),   A0A024R6A3 (UniProtKB/TrEMBL),   A0A218KGN3 (UniProtKB/TrEMBL),   A0A218KGN4 (UniProtKB/TrEMBL),   A0A218KGN7 (UniProtKB/TrEMBL),   A0A218KGP0 (UniProtKB/TrEMBL),   A0A218KGP1 (UniProtKB/TrEMBL),   A0A218KGP3 (UniProtKB/TrEMBL),   A0A218KGQ3 (UniProtKB/TrEMBL),   A0A218KGQ6 (UniProtKB/TrEMBL)
- Sequence:

Name Modeler Protein Id AA Range Protein Structure
AF-P49768-F1-model_v2 AlphaFold P49768 1-467 view protein structure

RGD ID:6791810
Promoter ID:HG_KWN:19724
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000261970,   ENST00000344094,   ENST00000394157,   ENST00000394164,   NM_000021,   NM_007318
Position:
Human AssemblyChrPosition (strand)Source
Build 361472,672,871 - 72,673,552 (+)MPROMDB
RGD ID:7228077
Promoter ID:EPDNEW_H19784
Type:initiation region
Name:PSEN1_1
Description:presenilin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19785  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,507 - 73,136,567EPDNEW
RGD ID:7228079
Promoter ID:EPDNEW_H19785
Type:initiation region
Name:PSEN1_2
Description:presenilin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19784  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381473,136,747 - 73,136,807EPDNEW


1 to 40 of 112 rows
Database
Acc Id
Source(s)
COSMIC PSEN1 COSMIC
Ensembl Genes ENSG00000080815 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000324501 ENTREZGENE
  ENST00000324501.10 UniProtKB/Swiss-Prot
  ENST00000357710 ENTREZGENE
  ENST00000357710.8 UniProtKB/Swiss-Prot
  ENST00000394157.7 UniProtKB/Swiss-Prot
  ENST00000394164 ENTREZGENE
  ENST00000394164.5 UniProtKB/Swiss-Prot
  ENST00000553599.6 UniProtKB/Swiss-Prot
  ENST00000553855.5 UniProtKB/Swiss-Prot
  ENST00000554131.6 UniProtKB/Swiss-Prot
  ENST00000555386.6 UniProtKB/Swiss-Prot
  ENST00000556951 ENTREZGENE
  ENST00000556951.6 UniProtKB/Swiss-Prot
  ENST00000557511.5 UniProtKB/Swiss-Prot
  ENST00000700265 ENTREZGENE
  ENST00000700265.1 UniProtKB/Swiss-Prot
  ENST00000700267 ENTREZGENE
  ENST00000700267.1 UniProtKB/Swiss-Prot
  ENST00000700268 ENTREZGENE
  ENST00000700268.1 UniProtKB/Swiss-Prot
  ENST00000700269.1 UniProtKB/Swiss-Prot
  ENST00000700273.1 UniProtKB/Swiss-Prot
  ENST00000700306.1 UniProtKB/Swiss-Prot
  ENST00000700313.1 UniProtKB/Swiss-Prot
  ENST00000700317.1 UniProtKB/Swiss-Prot
  ENST00000700321.1 UniProtKB/Swiss-Prot
  ENST00000700322.1 UniProtKB/Swiss-Prot
  ENST00000700323.1 UniProtKB/Swiss-Prot
  ENST00000700324.1 UniProtKB/Swiss-Prot
  ENST00000700375.1 UniProtKB/Swiss-Prot
  ENST00000700378 ENTREZGENE
  ENST00000700378.1 UniProtKB/Swiss-Prot
  ENST00000700389.1 UniProtKB/Swiss-Prot
  ENST00000700436.1 UniProtKB/Swiss-Prot
  ENST00000700469.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.472.100 UniProtKB/Swiss-Prot
GTEx ENSG00000080815 GTEx
HGNC ID HGNC:9508 ENTREZGENE
1 to 40 of 112 rows