PTOV1 (PTOV1 extended AT-hook containing adaptor protein) - Rat Genome Database

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Gene: PTOV1 (PTOV1 extended AT-hook containing adaptor protein) Homo sapiens
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Symbol: PTOV1
Name: PTOV1 extended AT-hook containing adaptor protein
RGD ID: 1315896
HGNC Page HGNC:9632
Description: Predicted to be involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACID2; activator interaction domain-containing protein 2; DKFZp586I111; MGC71475; prostate tumor overexpressed 1; prostate tumor overexpressed gene 1; prostate tumor-overexpressed gene 1 protein; PTOV-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PTOV1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,850,705 - 49,860,742 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,850,735 - 49,860,744 (+)EnsemblGRCh38hg38GRCh38
GRCh371950,353,962 - 50,363,999 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,046,228 - 55,055,811 (+)NCBINCBI36Build 36hg18NCBI36
Build 341955,046,293 - 55,055,809NCBI
Celera1947,223,866 - 47,233,449 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,730,759 - 46,740,340 (+)NCBIHuRef
CHM1_11950,356,254 - 50,365,835 (+)NCBICHM1_1
T2T-CHM13v2.01952,850,843 - 52,860,879 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:8889548   PMID:9110174   PMID:11313889   PMID:12477932   PMID:12598323   PMID:12975309   PMID:15713644   PMID:15778465   PMID:16169070   PMID:17641689   PMID:18451224  
PMID:20562859   PMID:21090589   PMID:21110951   PMID:21145461   PMID:21181414   PMID:21873635   PMID:22507319   PMID:23314748   PMID:23321499   PMID:23455324   PMID:24366813   PMID:24684754  
PMID:24947166   PMID:25270739   PMID:25634174   PMID:26156556   PMID:26186194   PMID:26305455   PMID:26496610   PMID:26499835   PMID:26746655   PMID:26760575   PMID:26972000   PMID:26992242  
PMID:27173435   PMID:27609421   PMID:27804940   PMID:28029646   PMID:28298427   PMID:28514442   PMID:28651486   PMID:28675297   PMID:28986522   PMID:30922918   PMID:31050705   PMID:31083670  
PMID:31253590   PMID:31387622   PMID:33660365   PMID:33729478   PMID:33961781   PMID:34654719   PMID:35271311   PMID:35944360   PMID:36424410   PMID:36931259   PMID:37317656   PMID:37499664  


Genomics

Comparative Map Data
PTOV1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,850,705 - 49,860,742 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,850,735 - 49,860,744 (+)EnsemblGRCh38hg38GRCh38
GRCh371950,353,962 - 50,363,999 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,046,228 - 55,055,811 (+)NCBINCBI36Build 36hg18NCBI36
Build 341955,046,293 - 55,055,809NCBI
Celera1947,223,866 - 47,233,449 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,730,759 - 46,740,340 (+)NCBIHuRef
CHM1_11950,356,254 - 50,365,835 (+)NCBICHM1_1
T2T-CHM13v2.01952,850,843 - 52,860,879 (+)NCBIT2T-CHM13v2.0
Ptov1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39744,512,491 - 44,523,542 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl744,512,491 - 44,519,212 (-)EnsemblGRCm39 Ensembl
GRCm38744,863,067 - 44,870,519 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl744,863,067 - 44,869,788 (-)EnsemblGRCm38mm10GRCm38
MGSCv37752,118,438 - 52,125,158 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36744,731,110 - 44,737,830 (-)NCBIMGSCv36mm8
Celera740,313,277 - 40,320,004 (-)NCBICelera
Cytogenetic Map7B3NCBI
cM Map728.94NCBI
Ptov1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81104,483,553 - 104,496,161 (-)NCBIGRCr8
mRatBN7.2195,347,065 - 95,354,514 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl195,347,068 - 95,353,613 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1100,732,451 - 100,738,997 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01109,205,116 - 109,211,662 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01102,495,525 - 102,502,071 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01100,859,346 - 100,866,917 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1100,859,349 - 100,865,894 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01101,923,967 - 101,931,540 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4195,335,898 - 95,342,444 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1195,414,009 - 95,420,555 (-)NCBI
Celera189,608,793 - 89,615,339 (-)NCBICelera
Cytogenetic Map1q22NCBI
Ptov1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555591,069,481 - 1,078,735 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555591,070,856 - 1,079,052 (-)NCBIChiLan1.0ChiLan1.0
PTOV1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22055,960,378 - 55,977,107 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11957,884,596 - 57,897,748 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01946,863,575 - 46,874,494 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11955,779,380 - 55,789,585 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1955,779,915 - 55,789,585 (+)Ensemblpanpan1.1panPan2
PTOV1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11106,702,970 - 106,711,945 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1106,702,971 - 106,711,781 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1106,285,880 - 106,294,856 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01107,223,889 - 107,232,866 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1107,223,897 - 107,232,707 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11106,895,973 - 106,904,950 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01106,537,957 - 106,546,934 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01107,378,439 - 107,387,415 (-)NCBIUU_Cfam_GSD_1.0
Ptov1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934922,021,538 - 22,031,225 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366643,639,675 - 3,648,919 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366643,639,681 - 3,649,415 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTOV1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl654,865,187 - 54,873,743 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1654,865,591 - 54,873,751 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2650,594,717 - 50,602,860 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PTOV1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1643,009,167 - 43,018,347 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607322,983,767 - 22,993,630 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ptov1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248324,468,426 - 4,476,721 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248324,468,427 - 4,476,805 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTOV1
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_001394010.1(PTOV1):c.635A>T (p.Lys212Met) single nucleotide variant Long QT syndrome [RCV000190203] Chr19:49857051 [GRCh38]
Chr19:50360308 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394010.1(PTOV1):c.335C>A (p.Thr112Asn) single nucleotide variant not specified [RCV004304906] Chr19:49854677 [GRCh38]
Chr19:50357934 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.989C>T (p.Thr330Ile) single nucleotide variant not specified [RCV004317368] Chr19:49858601 [GRCh38]
Chr19:50361858 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.287G>T (p.Ser96Ile) single nucleotide variant not specified [RCV004295168] Chr19:49854521 [GRCh38]
Chr19:50357778 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.260G>A (p.Arg87Gln) single nucleotide variant not specified [RCV004288704] Chr19:49854494 [GRCh38]
Chr19:50357751 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001394010.1(PTOV1):c.584T>C (p.Ile195Thr) single nucleotide variant not specified [RCV004305464] Chr19:49857000 [GRCh38]
Chr19:50360257 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.602G>A (p.Arg201His) single nucleotide variant not specified [RCV004294113] Chr19:49857018 [GRCh38]
Chr19:50360275 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_001394010.1(PTOV1):c.214T>G (p.Ser72Ala) single nucleotide variant not specified [RCV004315236] Chr19:49854448 [GRCh38]
Chr19:50357705 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
GRCh37/hg19 19q13.33(chr19:50355646-50552140) copy number gain not specified [RCV002052690] Chr19:50355646..50552140 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49519325)_(50366015_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV002030046] Chr19:49519325..50366015 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.587C>T (p.Ser196Phe) single nucleotide variant not specified [RCV004315569] Chr19:49857003 [GRCh38]
Chr19:50360260 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.998T>C (p.Leu333Pro) single nucleotide variant not specified [RCV004132559] Chr19:49858610 [GRCh38]
Chr19:50361867 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.685A>G (p.Ile229Val) single nucleotide variant not specified [RCV004162541] Chr19:49857101 [GRCh38]
Chr19:50360358 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.292G>A (p.Val98Ile) single nucleotide variant not specified [RCV004223103] Chr19:49854526 [GRCh38]
Chr19:50357783 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.1136T>G (p.Ile379Ser) single nucleotide variant not specified [RCV004120123] Chr19:49860080 [GRCh38]
Chr19:50363337 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.38C>A (p.Ala13Asp) single nucleotide variant not specified [RCV004104753] Chr19:49851366 [GRCh38]
Chr19:50354623 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.125G>A (p.Arg42Gln) single nucleotide variant not specified [RCV004149589] Chr19:49851453 [GRCh38]
Chr19:50354710 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.1175G>A (p.Arg392His) single nucleotide variant not specified [RCV004190691] Chr19:49860119 [GRCh38]
Chr19:50363376 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.853G>A (p.Val285Ile) single nucleotide variant not specified [RCV004096954] Chr19:49857952 [GRCh38]
Chr19:50361209 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394010.1(PTOV1):c.16C>T (p.Arg6Cys) single nucleotide variant not specified [RCV004128058] Chr19:49851344 [GRCh38]
Chr19:50354601 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.208G>T (p.Gly70Cys) single nucleotide variant not specified [RCV004209551] Chr19:49854442 [GRCh38]
Chr19:50357699 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.1049G>A (p.Cys350Tyr) single nucleotide variant not specified [RCV004180031] Chr19:49859993 [GRCh38]
Chr19:50363250 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.194C>T (p.Ala65Val) single nucleotide variant not specified [RCV004147601] Chr19:49854428 [GRCh38]
Chr19:50357685 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.130C>T (p.Pro44Ser) single nucleotide variant not specified [RCV004193737] Chr19:49851458 [GRCh38]
Chr19:50354715 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.17G>A (p.Arg6His) single nucleotide variant not specified [RCV004070923] Chr19:49851345 [GRCh38]
Chr19:50354602 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.22C>T (p.Pro8Ser) single nucleotide variant not specified [RCV004183455] Chr19:49851350 [GRCh38]
Chr19:50354607 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.49C>G (p.Leu17Val) single nucleotide variant not specified [RCV004165016] Chr19:49851377 [GRCh38]
Chr19:50354634 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.891G>T (p.Gln297His) single nucleotide variant not specified [RCV004241880] Chr19:49858069 [GRCh38]
Chr19:50361326 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.1171C>T (p.Arg391Trp) single nucleotide variant not specified [RCV004216841] Chr19:49860115 [GRCh38]
Chr19:50363372 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.765C>G (p.Asn255Lys) single nucleotide variant not specified [RCV004253965] Chr19:49857743 [GRCh38]
Chr19:50361000 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.128G>A (p.Gly43Asp) single nucleotide variant not specified [RCV004260323] Chr19:49851456 [GRCh38]
Chr19:50354713 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.127G>T (p.Gly43Cys) single nucleotide variant not specified [RCV004270923] Chr19:49851455 [GRCh38]
Chr19:50354712 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.116C>T (p.Ala39Val) single nucleotide variant not specified [RCV004258905] Chr19:49851444 [GRCh38]
Chr19:50354701 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.451A>G (p.Thr151Ala) single nucleotide variant not specified [RCV004329823] Chr19:49854970 [GRCh38]
Chr19:50358227 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.818C>T (p.Pro273Leu) single nucleotide variant not specified [RCV004358830] Chr19:49857917 [GRCh38]
Chr19:50361174 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.380A>G (p.Gln127Arg) single nucleotide variant not specified [RCV004348512] Chr19:49854722 [GRCh38]
Chr19:50357979 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_001394010.1(PTOV1):c.1193A>G (p.Gln398Arg) single nucleotide variant not specified [RCV004444902] Chr19:49860137 [GRCh38]
Chr19:50363394 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.65G>T (p.Arg22Leu) single nucleotide variant not specified [RCV004444905] Chr19:49851393 [GRCh38]
Chr19:50354650 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.827G>A (p.Arg276Gln) single nucleotide variant not specified [RCV004444907] Chr19:49857926 [GRCh38]
Chr19:50361183 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.82G>A (p.Val28Met) single nucleotide variant not specified [RCV004444908] Chr19:49851410 [GRCh38]
Chr19:50354667 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.649C>G (p.Leu217Val) single nucleotide variant not specified [RCV004444904] Chr19:49857065 [GRCh38]
Chr19:50360322 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.748G>C (p.Val250Leu) single nucleotide variant not specified [RCV004444906] Chr19:49857726 [GRCh38]
Chr19:50360983 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49713446)_(50413064_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV004581120] Chr19:49713446..50413064 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_50331686)_(50367680_?)del deletion Developmental and epileptic encephalopathy, 12 [RCV004581119] Chr19:50331686..50367680 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394010.1(PTOV1):c.731G>A (p.Gly244Asp) single nucleotide variant not specified [RCV004662496] Chr19:49857709 [GRCh38]
Chr19:50360966 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.1164C>A (p.Asn388Lys) single nucleotide variant not specified [RCV004662495] Chr19:49860108 [GRCh38]
Chr19:50363365 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.23C>T (p.Pro8Leu) single nucleotide variant not specified [RCV004666881] Chr19:49851351 [GRCh38]
Chr19:50354608 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.968G>A (p.Arg323His) single nucleotide variant not specified [RCV004662494] Chr19:49858580 [GRCh38]
Chr19:50361837 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394010.1(PTOV1):c.1073C>T (p.Ser358Leu) single nucleotide variant not specified [RCV004666880] Chr19:49860017 [GRCh38]
Chr19:50363274 [GRCh37]
Chr19:19q13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7505
Count of miRNA genes:1079
Interacting mature miRNAs:1392
Transcripts:ENST00000221557, ENST00000391842, ENST00000594151, ENST00000594165, ENST00000594640, ENST00000595934, ENST00000596095, ENST00000596424, ENST00000597730, ENST00000597793, ENST00000598325, ENST00000598632, ENST00000599732, ENST00000600105, ENST00000600603, ENST00000600793, ENST00000601093, ENST00000601501, ENST00000601612, ENST00000601638, ENST00000601675, ENST00000602040
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
WI-15464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,363,874 - 50,363,987UniSTSGRCh37
GRCh373120,026,862 - 120,026,975UniSTSGRCh37
Build 363121,509,552 - 121,509,665RGDNCBI36
Celera3118,436,263 - 118,436,376RGD
Celera1947,233,324 - 47,233,437UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3q13.33UniSTS
HuRef3117,402,687 - 117,402,800UniSTS
HuRef1946,740,215 - 46,740,328UniSTS
GeneMap99-GB4 RH Map19268.71UniSTS
Whitehead-RH Map19347.1UniSTS
NCBI RH Map19530.0UniSTS
STS-AA018544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,355,314 - 50,355,573UniSTSGRCh37
Build 361955,047,126 - 55,047,385RGDNCBI36
Celera1947,224,764 - 47,225,023RGD
Cytogenetic Map19q13.33UniSTS
HuRef1946,731,656 - 46,731,915UniSTS
GeneMap99-GB4 RH Map19272.69UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001305105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001305108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_130963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA582677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF218026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF238381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ617480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM677857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU185109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB496336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000391842   ⟹   ENSP00000375717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,851,159 - 49,860,742 (+)Ensembl
Ensembl Acc Id: ENST00000594151   ⟹   ENSP00000469839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,850,735 - 49,857,782 (+)Ensembl
Ensembl Acc Id: ENST00000594165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,850,999 - 49,858,637 (+)Ensembl
Ensembl Acc Id: ENST00000594640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,851,953 - 49,855,065 (+)Ensembl
Ensembl Acc Id: ENST00000595934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,856,504 - 49,858,383 (+)Ensembl
Ensembl Acc Id: ENST00000596095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,851,403 - 49,852,696 (+)Ensembl
Ensembl Acc Id: ENST00000596424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,857,043 - 49,858,863 (+)Ensembl
Ensembl Acc Id: ENST00000597730   ⟹   ENSP00000468905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,860,139 - 49,860,742 (+)Ensembl
Ensembl Acc Id: ENST00000597793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,856,136 - 49,860,740 (+)Ensembl
Ensembl Acc Id: ENST00000598325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,851,020 - 49,860,725 (+)Ensembl
Ensembl Acc Id: ENST00000598632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,850,837 - 49,855,644 (+)Ensembl
Ensembl Acc Id: ENST00000599732   ⟹   ENSP00000469128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,851,191 - 49,860,744 (+)Ensembl
Ensembl Acc Id: ENST00000600105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,855,055 - 49,858,114 (+)Ensembl
Ensembl Acc Id: ENST00000600603   ⟹   ENSP00000471458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,850,754 - 49,860,739 (+)Ensembl
Ensembl Acc Id: ENST00000600793   ⟹   ENSP00000470439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,854,406 - 49,857,121 (+)Ensembl
Ensembl Acc Id: ENST00000601093   ⟹   ENSP00000469838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,857,907 - 49,860,742 (+)Ensembl
Ensembl Acc Id: ENST00000601501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,850,989 - 49,855,146 (+)Ensembl
Ensembl Acc Id: ENST00000601612   ⟹   ENSP00000470007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,850,735 - 49,860,740 (+)Ensembl
Ensembl Acc Id: ENST00000601638   ⟹   ENSP00000469541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,850,828 - 49,860,713 (+)Ensembl
Ensembl Acc Id: ENST00000601675   ⟹   ENSP00000472816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,851,225 - 49,860,740 (+)Ensembl
Ensembl Acc Id: ENST00000602040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,851,387 - 49,854,997 (+)Ensembl
RefSeq Acc Id: NM_001305105   ⟹   NP_001292034
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,851,159 - 49,860,742 (+)NCBI
CHM1_11950,356,215 - 50,365,837 (+)NCBI
T2T-CHM13v2.01952,851,297 - 52,860,879 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001305108   ⟹   NP_001292037
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,850,705 - 49,860,742 (+)NCBI
CHM1_11950,355,830 - 50,365,837 (+)NCBI
T2T-CHM13v2.01952,850,843 - 52,860,879 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364745   ⟹   NP_001351674
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,850,705 - 49,860,742 (+)NCBI
T2T-CHM13v2.01952,850,843 - 52,860,879 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364747   ⟹   NP_001351676
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,850,705 - 49,860,742 (+)NCBI
T2T-CHM13v2.01952,850,843 - 52,860,879 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364748   ⟹   NP_001351677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,850,992 - 49,860,742 (+)NCBI
T2T-CHM13v2.01952,851,130 - 52,860,879 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364749   ⟹   NP_001351678
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,850,705 - 49,860,742 (+)NCBI
T2T-CHM13v2.01952,850,843 - 52,860,879 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364750   ⟹   NP_001351679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,850,992 - 49,860,742 (+)NCBI
T2T-CHM13v2.01952,851,130 - 52,860,879 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394010   ⟹   NP_001380939
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,851,159 - 49,860,742 (+)NCBI
T2T-CHM13v2.01952,851,297 - 52,860,879 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017432   ⟹   NP_059128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,851,159 - 49,860,742 (+)NCBI
GRCh371950,353,667 - 50,363,999 (+)NCBI
Build 361955,046,228 - 55,055,811 (+)NCBI Archive
HuRef1946,730,759 - 46,740,340 (+)ENTREZGENE
CHM1_11950,356,215 - 50,365,837 (+)NCBI
T2T-CHM13v2.01952,851,297 - 52,860,879 (+)NCBI
Sequence:
RefSeq Acc Id: NR_130963
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,850,705 - 49,860,742 (+)NCBI
CHM1_11950,355,830 - 50,365,837 (+)NCBI
T2T-CHM13v2.01952,850,843 - 52,860,879 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047438940   ⟹   XP_047294896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,850,705 - 49,860,059 (+)NCBI
RefSeq Acc Id: XM_054321224   ⟹   XP_054177199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,850,843 - 52,860,196 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001292034 (Get FASTA)   NCBI Sequence Viewer  
  NP_001292037 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351674 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351676 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351677 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351678 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351679 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380939 (Get FASTA)   NCBI Sequence Viewer  
  NP_059128 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294896 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177199 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF70635 (Get FASTA)   NCBI Sequence Viewer  
  AAG17268 (Get FASTA)   NCBI Sequence Viewer  
  AAH15172 (Get FASTA)   NCBI Sequence Viewer  
  AAH42921 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88535 (Get FASTA)   NCBI Sequence Viewer  
  BAG57628 (Get FASTA)   NCBI Sequence Viewer  
  CAE84582 (Get FASTA)   NCBI Sequence Viewer  
  EAW52552 (Get FASTA)   NCBI Sequence Viewer  
  EAW52553 (Get FASTA)   NCBI Sequence Viewer  
  EAW52554 (Get FASTA)   NCBI Sequence Viewer  
  EAW52555 (Get FASTA)   NCBI Sequence Viewer  
  EAW52556 (Get FASTA)   NCBI Sequence Viewer  
  EAW52557 (Get FASTA)   NCBI Sequence Viewer  
  EAW52558 (Get FASTA)   NCBI Sequence Viewer  
  EAW52559 (Get FASTA)   NCBI Sequence Viewer  
  EAW52560 (Get FASTA)   NCBI Sequence Viewer  
  EAW52561 (Get FASTA)   NCBI Sequence Viewer  
  EAW52562 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000375717
  ENSP00000375717.1
  ENSP00000468905.1
  ENSP00000469128
  ENSP00000469128.1
  ENSP00000469541
  ENSP00000469541.1
  ENSP00000469838.1
  ENSP00000469839.1
  ENSP00000470007.1
  ENSP00000470439.1
  ENSP00000471458
  ENSP00000471458.1
  ENSP00000472816
  ENSP00000472816.1
GenBank Protein Q86YD1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_059128   ⟸   NM_017432
- Peptide Label: isoform 1
- UniProtKB: Q9HBN4 (UniProtKB/Swiss-Prot),   Q96BU3 (UniProtKB/Swiss-Prot),   Q6UXX7 (UniProtKB/Swiss-Prot),   Q9NYL1 (UniProtKB/Swiss-Prot),   Q86YD1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001292037   ⟸   NM_001305108
- Peptide Label: isoform 2
- UniProtKB: A0A0C4DGR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001292034   ⟸   NM_001305105
- Peptide Label: isoform 1
- UniProtKB: Q9HBN4 (UniProtKB/Swiss-Prot),   Q96BU3 (UniProtKB/Swiss-Prot),   Q6UXX7 (UniProtKB/Swiss-Prot),   Q9NYL1 (UniProtKB/Swiss-Prot),   Q86YD1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001351678   ⟸   NM_001364749
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001351676   ⟸   NM_001364747
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001351674   ⟸   NM_001364745
- Peptide Label: isoform 3
- UniProtKB: M0QY25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001351677   ⟸   NM_001364748
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001351679   ⟸   NM_001364750
- Peptide Label: isoform 5
Ensembl Acc Id: ENSP00000468905   ⟸   ENST00000597730
Ensembl Acc Id: ENSP00000469128   ⟸   ENST00000599732
Ensembl Acc Id: ENSP00000471458   ⟸   ENST00000600603
Ensembl Acc Id: ENSP00000470439   ⟸   ENST00000600793
Ensembl Acc Id: ENSP00000469541   ⟸   ENST00000601638
Ensembl Acc Id: ENSP00000472816   ⟸   ENST00000601675
Ensembl Acc Id: ENSP00000470007   ⟸   ENST00000601612
Ensembl Acc Id: ENSP00000469838   ⟸   ENST00000601093
Ensembl Acc Id: ENSP00000375717   ⟸   ENST00000391842
Ensembl Acc Id: ENSP00000469839   ⟸   ENST00000594151
RefSeq Acc Id: NP_001380939   ⟸   NM_001394010
- Peptide Label: isoform 1
- UniProtKB: Q9HBN4 (UniProtKB/Swiss-Prot),   Q96BU3 (UniProtKB/Swiss-Prot),   Q86YD1 (UniProtKB/Swiss-Prot),   Q6UXX7 (UniProtKB/Swiss-Prot),   Q9NYL1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047294896   ⟸   XM_047438940
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177199   ⟸   XM_054321224
- Peptide Label: isoform X1
Protein Domains
Mediator complex subunit Med25 PTOV

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86YD1-F1-model_v2 AlphaFold Q86YD1 1-416 view protein structure

Promoters
RGD ID:13205187
Promoter ID:EPDNEW_H26174
Type:initiation region
Name:PTOV1_1
Description:prostate tumor overexpressed 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,851,182 - 49,851,242EPDNEW
RGD ID:6795113
Promoter ID:HG_KWN:30580
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000221557,   NM_017432,   UC002PPZ.2,   UC002PQA.1,   UC002PQB.2,   UC002PQC.1,   UC002PQD.2,   UC002PQE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361955,045,056 - 55,046,202 (+)MPROMDB
RGD ID:6811720
Promoter ID:HG_ACW:42301
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:PTOV1.LAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361955,051,216 - 55,051,967 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9632 AgrOrtholog
COSMIC PTOV1 COSMIC
Ensembl Genes ENSG00000104960 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000391842 ENTREZGENE
  ENST00000391842.6 UniProtKB/Swiss-Prot
  ENST00000594151.5 UniProtKB/TrEMBL
  ENST00000597730.1 UniProtKB/TrEMBL
  ENST00000598325 ENTREZGENE
  ENST00000599732 ENTREZGENE
  ENST00000599732.5 UniProtKB/Swiss-Prot
  ENST00000600603 ENTREZGENE
  ENST00000600603.5 UniProtKB/TrEMBL
  ENST00000600793.1 UniProtKB/TrEMBL
  ENST00000601093.5 UniProtKB/TrEMBL
  ENST00000601612 ENTREZGENE
  ENST00000601612.5 UniProtKB/TrEMBL
  ENST00000601638 ENTREZGENE
  ENST00000601638.5 UniProtKB/TrEMBL
  ENST00000601675 ENTREZGENE
  ENST00000601675.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.290.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104960 GTEx
HGNC ID HGNC:9632 ENTREZGENE
Human Proteome Map PTOV1 Human Proteome Map
InterPro Med25_PTOV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTOV_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:53635 UniProtKB/Swiss-Prot
NCBI Gene 53635 ENTREZGENE
OMIM 610195 OMIM
PANTHER MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION SUBUNIT 25 UniProtKB/TrEMBL
  PROSTATE TUMOR-OVEREXPRESSED GENE 1 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12433 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Med25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33976 PharmGKB
UniProt A0A0C4DGR2 ENTREZGENE, UniProtKB/TrEMBL
  B4DG17_HUMAN UniProtKB/TrEMBL
  M0QX53_HUMAN UniProtKB/TrEMBL
  M0QY25 ENTREZGENE, UniProtKB/TrEMBL
  M0QYH6_HUMAN UniProtKB/TrEMBL
  M0QYH7_HUMAN UniProtKB/TrEMBL
  M0QYQ4_HUMAN UniProtKB/TrEMBL
  M0QZB9_HUMAN UniProtKB/TrEMBL
  PTOV1_HUMAN UniProtKB/Swiss-Prot
  Q6UXX7 ENTREZGENE
  Q86YD1 ENTREZGENE
  Q96BU3 ENTREZGENE
  Q9HBN4 ENTREZGENE
  Q9NYL1 ENTREZGENE
UniProt Secondary Q6UXX7 UniProtKB/Swiss-Prot
  Q96BU3 UniProtKB/Swiss-Prot
  Q9HBN4 UniProtKB/Swiss-Prot
  Q9NYL1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 PTOV1  PTOV1 extended AT-hook containing adaptor protein    PTOV1, extended AT-hook containing adaptor protein  Symbol and/or name change 5135510 APPROVED
2018-11-29 PTOV1  PTOV1, extended AT-hook containing adaptor protein    prostate tumor overexpressed 1  Symbol and/or name change 5135510 APPROVED