OVCH1 (ovochymase 1) - Rat Genome Database

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Gene: OVCH1 (ovochymase 1) Homo sapiens
Analyze
Symbol: OVCH1
Name: ovochymase 1
RGD ID: 1343843
HGNC Page HGNC:23080
Description: Predicted to enable metal ion binding activity and serine-type endopeptidase activity. Predicted to be involved in acrosome reaction and proteolysis. Predicted to be located in extracellular region.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: OVCH; ovochymase-1
RGD Orthologs
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381229,402,168 - 29,497,686 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1229,412,474 - 29,497,686 (-)EnsemblGRCh38hg38GRCh38
GRCh371229,592,786 - 29,650,619 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361229,471,756 - 29,541,886 (-)NCBINCBI36Build 36hg18NCBI36
Build 341229,471,755 - 29,541,886NCBI
Celera1234,725,854 - 34,795,972 (-)NCBICelera
Cytogenetic Map12p11.22NCBI
HuRef1229,348,909 - 29,418,913 (-)NCBIHuRef
CHM1_11229,545,707 - 29,615,825 (-)NCBICHM1_1
T2T-CHM13v2.01229,274,652 - 29,369,816 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
proteolysis  (IEA)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
Additional References at PubMed
PMID:12838346   PMID:16541075   PMID:21873635   PMID:30021884   PMID:36243803  


Genomics

Comparative Map Data
OVCH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381229,402,168 - 29,497,686 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1229,412,474 - 29,497,686 (-)EnsemblGRCh38hg38GRCh38
GRCh371229,592,786 - 29,650,619 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361229,471,756 - 29,541,886 (-)NCBINCBI36Build 36hg18NCBI36
Build 341229,471,755 - 29,541,886NCBI
Celera1234,725,854 - 34,795,972 (-)NCBICelera
Cytogenetic Map12p11.22NCBI
HuRef1229,348,909 - 29,418,913 (-)NCBIHuRef
CHM1_11229,545,707 - 29,615,825 (-)NCBICHM1_1
T2T-CHM13v2.01229,274,652 - 29,369,816 (-)NCBIT2T-CHM13v2.0
OVCH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21067,310,579 - 67,382,532 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11267,306,980 - 67,365,509 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01256,807,004 - 56,868,758 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11259,433,377 - 59,496,403 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1259,433,377 - 59,507,000 (+)Ensemblpanpan1.1panPan2
OVCH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12718,526,235 - 18,597,084 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2727,830,812 - 27,884,693 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02718,712,884 - 18,765,682 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12718,526,576 - 18,598,645 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02718,552,695 - 18,623,473 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02727,986,798 - 28,039,595 (-)NCBIUU_Cfam_GSD_1.0
Ovch1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494580,383,828 - 80,435,724 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049367601,497,773 - 1,550,201 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OVCH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl544,228,207 - 44,319,672 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1544,228,254 - 44,312,890 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2547,544,628 - 47,638,428 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OVCH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11129,148,046 - 29,203,408 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1129,149,827 - 29,204,050 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660695,827,207 - 5,887,512 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in OVCH1
56 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p12.1-11.21(chr12:21771052-32222232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|See cases [RCV000052783] Chr12:21771052..32222232 [GRCh38]
Chr12:21923986..32375166 [GRCh37]
Chr12:21815253..32266433 [NCBI36]
Chr12:12p12.1-11.21		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1 copy number loss See cases [RCV000133858] Chr12:25263833..34064528 [GRCh38]
Chr12:25416767..34217463 [GRCh37]
Chr12:25308034..34108730 [NCBI36]
Chr12:12p12.1-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001353179.2(OVCH1):c.965A>G (p.Glu322Gly) single nucleotide variant Inborn genetic diseases [RCV003266817] Chr12:29486276 [GRCh38]
Chr12:29639209 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1317G>T (p.Glu439Asp) single nucleotide variant Inborn genetic diseases [RCV003244197] Chr12:29477375 [GRCh38]
Chr12:29630308 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p11.22(chr12:29494633-29628021)x3 copy number gain See cases [RCV000449382] Chr12:29494633..29628021 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p11.22(chr12:29056626-29766989)x0 copy number loss See cases [RCV000449326] Chr12:29056626..29766989 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3 copy number gain See cases [RCV000512134] Chr12:29579030..34835837 [GRCh37]
Chr12:12p11.22-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3 copy number gain See cases [RCV000512027] Chr12:29123400..40956186 [GRCh37]
Chr12:12p11.22-q12		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p11.22-11.21(chr12:29532369-30711970)x3 copy number gain See cases [RCV000511163] Chr12:29532369..30711970 [GRCh37]
Chr12:12p11.22-11.21		 uncertain significance
NM_001353179.2(OVCH1):c.137G>A (p.Arg46Lys) single nucleotide variant Inborn genetic diseases [RCV003282588] Chr12:29496602 [GRCh38]
Chr12:29649535 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.2498C>A (p.Ala833Asp) single nucleotide variant Inborn genetic diseases [RCV003268878] Chr12:29455293 [GRCh38]
Chr12:29608226 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1318C>T (p.Leu440Phe) single nucleotide variant Inborn genetic diseases [RCV003244198] Chr12:29477374 [GRCh38]
Chr12:29630307 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.823A>G (p.Lys275Glu) single nucleotide variant Inborn genetic diseases [RCV003243567] Chr12:29487762 [GRCh38]
Chr12:29640695 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p11.22(chr12:29496129-30000274)x1 copy number loss not provided [RCV000683439] Chr12:29496129..30000274 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p11.22(chr12:29426826-29630386)x3 copy number gain not provided [RCV000683401] Chr12:29426826..29630386 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p11.22(chr12:29370200-29596365)x3 copy number gain not provided [RCV000750344] Chr12:29370200..29596365 [GRCh37]
Chr12:12p11.22		 benign
NM_001353179.2(OVCH1):c.1229A>G (p.Lys410Arg) single nucleotide variant Inborn genetic diseases [RCV003245960] Chr12:29477463 [GRCh38]
Chr12:29630396 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh38/hg38 12p11.22(chr12:28942339-29418625)x3 copy number gain See cases [RCV000141623] Chr12:28942339..29418625 [GRCh38]
Chr12:29095272..29571558 [GRCh37]
Chr12:28986539..29462825 [NCBI36]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.2141T>G (p.Val714Gly) single nucleotide variant Inborn genetic diseases [RCV003300584] Chr12:29464596 [GRCh38]
Chr12:29617529 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.36G>C (p.Leu12Phe) single nucleotide variant Inborn genetic diseases [RCV002840460] Chr12:29497651 [GRCh38]
Chr12:29650584 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.3205G>C (p.Val1069Leu) single nucleotide variant Inborn genetic diseases [RCV002906133] Chr12:29443418 [GRCh38]
Chr12:29596351 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.2053A>G (p.Ile685Val) single nucleotide variant Inborn genetic diseases [RCV002728103] Chr12:29464684 [GRCh38]
Chr12:29617617 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.2317C>T (p.Pro773Ser) single nucleotide variant Inborn genetic diseases [RCV002748797] Chr12:29461922 [GRCh38]
Chr12:29614855 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1426C>T (p.Pro476Ser) single nucleotide variant Inborn genetic diseases [RCV002684265] Chr12:29477158 [GRCh38]
Chr12:29630091 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1631C>T (p.Thr544Met) single nucleotide variant Inborn genetic diseases [RCV002686586] Chr12:29475135 [GRCh38]
Chr12:29628068 [GRCh37]
Chr12:12p11.22		 likely benign
NM_001353179.2(OVCH1):c.1450T>A (p.Phe484Ile) single nucleotide variant Inborn genetic diseases [RCV002821301] Chr12:29477134 [GRCh38]
Chr12:29630067 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.592A>G (p.Ile198Val) single nucleotide variant Inborn genetic diseases [RCV002660765] Chr12:29489730 [GRCh38]
Chr12:29642663 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.157T>G (p.Ser53Ala) single nucleotide variant Inborn genetic diseases [RCV002924588] Chr12:29496582 [GRCh38]
Chr12:29649515 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.805G>A (p.Val269Ile) single nucleotide variant Inborn genetic diseases [RCV002660524] Chr12:29487780 [GRCh38]
Chr12:29640713 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.2299A>G (p.Thr767Ala) single nucleotide variant Inborn genetic diseases [RCV002980927] Chr12:29461940 [GRCh38]
Chr12:29614873 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.3161T>C (p.Ile1054Thr) single nucleotide variant Inborn genetic diseases [RCV002924225] Chr12:29443462 [GRCh38]
Chr12:29596395 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1154A>G (p.Lys385Arg) single nucleotide variant Inborn genetic diseases [RCV002760072] Chr12:29478894 [GRCh38]
Chr12:29631827 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.693C>G (p.Asp231Glu) single nucleotide variant Inborn genetic diseases [RCV002784906] Chr12:29489629 [GRCh38]
Chr12:29642562 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1942G>A (p.Ala648Thr) single nucleotide variant Inborn genetic diseases [RCV002980364] Chr12:29471821 [GRCh38]
Chr12:29624754 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.2135A>G (p.Asn712Ser) single nucleotide variant Inborn genetic diseases [RCV002955008] Chr12:29464602 [GRCh38]
Chr12:29617535 [GRCh37]
Chr12:12p11.22		 likely benign
NM_001353179.2(OVCH1):c.2717T>C (p.Leu906Pro) single nucleotide variant Inborn genetic diseases [RCV002665648] Chr12:29451488 [GRCh38]
Chr12:29604421 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.3154C>T (p.His1052Tyr) single nucleotide variant Inborn genetic diseases [RCV002802390] Chr12:29443469 [GRCh38]
Chr12:29596402 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.2876G>A (p.Arg959Lys) single nucleotide variant Inborn genetic diseases [RCV002954811] Chr12:29445388 [GRCh38]
Chr12:29598321 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.529G>A (p.Gly177Arg) single nucleotide variant Inborn genetic diseases [RCV002765295] Chr12:29491118 [GRCh38]
Chr12:29644051 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1748A>G (p.Asn583Ser) single nucleotide variant Inborn genetic diseases [RCV002701843] Chr12:29473061 [GRCh38]
Chr12:29625994 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1877G>A (p.Gly626Asp) single nucleotide variant Inborn genetic diseases [RCV002708880] Chr12:29471886 [GRCh38]
Chr12:29624819 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.2371A>G (p.Lys791Glu) single nucleotide variant Inborn genetic diseases [RCV002892441] Chr12:29461868 [GRCh38]
Chr12:29614801 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.978C>A (p.Ser326Arg) single nucleotide variant Inborn genetic diseases [RCV002935621] Chr12:29486263 [GRCh38]
Chr12:29639196 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.2540A>G (p.Asn847Ser) single nucleotide variant Inborn genetic diseases [RCV003010920] Chr12:29455251 [GRCh38]
Chr12:29608184 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.3224G>A (p.Arg1075His) single nucleotide variant Inborn genetic diseases [RCV002807597] Chr12:29443399 [GRCh38]
Chr12:29596332 [GRCh37]
Chr12:12p11.22		 likely benign
NM_001353179.2(OVCH1):c.2603C>G (p.Pro868Arg) single nucleotide variant Inborn genetic diseases [RCV002809416] Chr12:29454873 [GRCh38]
Chr12:29607806 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.580A>G (p.Met194Val) single nucleotide variant Inborn genetic diseases [RCV002940410] Chr12:29489742 [GRCh38]
Chr12:29642675 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.398G>A (p.Arg133His) single nucleotide variant Inborn genetic diseases [RCV002649200] Chr12:29495341 [GRCh38]
Chr12:29648274 [GRCh37]
Chr12:12p11.22		 likely benign
NM_001353179.2(OVCH1):c.1214-64A>G single nucleotide variant Inborn genetic diseases [RCV002965152] Chr12:29477542 [GRCh38]
Chr12:29630475 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1610T>C (p.Ile537Thr) single nucleotide variant Inborn genetic diseases [RCV002678620] Chr12:29475156 [GRCh38]
Chr12:29628089 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.377C>G (p.Thr126Ser) single nucleotide variant Inborn genetic diseases [RCV002656934] Chr12:29495362 [GRCh38]
Chr12:29648295 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1289A>T (p.Asp430Val) single nucleotide variant Inborn genetic diseases [RCV002679133] Chr12:29477403 [GRCh38]
Chr12:29630336 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001353179.2(OVCH1):c.116T>C (p.Val39Ala) single nucleotide variant Inborn genetic diseases [RCV003192616] Chr12:29496623 [GRCh38]
Chr12:29649556 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.2716C>G (p.Leu906Val) single nucleotide variant Inborn genetic diseases [RCV003181306] Chr12:29451489 [GRCh38]
Chr12:29604422 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.2216G>A (p.Gly739Glu) single nucleotide variant Inborn genetic diseases [RCV003208231] Chr12:29464521 [GRCh38]
Chr12:29617454 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1146C>A (p.Asp382Glu) single nucleotide variant Inborn genetic diseases [RCV003194494] Chr12:29478902 [GRCh38]
Chr12:29631835 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1762G>A (p.Val588Ile) single nucleotide variant Inborn genetic diseases [RCV003190501] Chr12:29473047 [GRCh38]
Chr12:29625980 [GRCh37]
Chr12:12p11.22		 likely benign
NM_001353179.2(OVCH1):c.3041T>C (p.Leu1014Ser) single nucleotide variant Inborn genetic diseases [RCV003178485] Chr12:29444226 [GRCh38]
Chr12:29597159 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.3185C>T (p.Pro1062Leu) single nucleotide variant Inborn genetic diseases [RCV003192106] Chr12:29443438 [GRCh38]
Chr12:29596371 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.817C>T (p.His273Tyr) single nucleotide variant Inborn genetic diseases [RCV003340162] Chr12:29487768 [GRCh38]
Chr12:29640701 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1841A>T (p.Glu614Val) single nucleotide variant Inborn genetic diseases [RCV003360109] Chr12:29471922 [GRCh38]
Chr12:29624855 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.241C>T (p.Arg81Trp) single nucleotide variant Inborn genetic diseases [RCV003350103] Chr12:29496221 [GRCh38]
Chr12:29649154 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1804A>G (p.Ser602Gly) single nucleotide variant Inborn genetic diseases [RCV003366713] Chr12:29471959 [GRCh38]
Chr12:29624892 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_001353179.2(OVCH1):c.1792A>G (p.Ile598Val) single nucleotide variant Inborn genetic diseases [RCV003351866] Chr12:29471971 [GRCh38]
Chr12:29624904 [GRCh37]
Chr12:12p11.22		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:377
Count of miRNA genes:315
Interacting mature miRNAs:336
Transcripts:ENST00000318184, ENST00000537054, ENST00000539117
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D12S1631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371229,629,612 - 29,629,800UniSTSGRCh37
Build 361229,520,879 - 29,521,067RGDNCBI36
Celera1234,774,981 - 34,775,155RGD
Cytogenetic Map12p11.22UniSTS
HuRef1229,397,926 - 29,398,100UniSTS
Marshfield Genetic Map1250.9RGD
Marshfield Genetic Map1250.9UniSTS
Genethon Genetic Map1251.9UniSTS
Whitehead-YAC Contig Map12 UniSTS
G60555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371229,629,607 - 29,629,934UniSTSGRCh37
Build 361229,520,874 - 29,521,201RGDNCBI36
Celera1234,774,976 - 34,775,289RGD
Cytogenetic Map12p11.22UniSTS
HuRef1229,397,921 - 29,398,234UniSTS
TNG Radiation Hybrid Map1213168.0UniSTS
TNG Radiation Hybrid Map1123628.0UniSTS
G62393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371229,644,254 - 29,644,459UniSTSGRCh37
Build 361229,535,521 - 29,535,726RGDNCBI36
Celera1234,789,608 - 34,789,813RGD
Cytogenetic Map12p11.22UniSTS
HuRef1229,412,549 - 29,412,754UniSTS
G62263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371229,615,156 - 29,615,434UniSTSGRCh37
Build 361229,506,423 - 29,506,701RGDNCBI36
Celera1234,760,523 - 34,760,801RGD
Cytogenetic Map12p11.22UniSTS
HuRef1229,383,468 - 29,383,746UniSTS
G62264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371229,633,824 - 29,633,986UniSTSGRCh37
Build 361229,525,091 - 29,525,253RGDNCBI36
Celera1234,779,180 - 34,779,342RGD
Cytogenetic Map12p11.22UniSTS
HuRef1229,402,125 - 29,402,287UniSTS
G64653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371229,633,997 - 29,634,166UniSTSGRCh37
Build 361229,525,264 - 29,525,433RGDNCBI36
Celera1234,779,353 - 34,779,522RGD
Cytogenetic Map12p11.22UniSTS
HuRef1229,402,298 - 29,402,467UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 1
Low 185 570 105 3 282 3 659 128 287 26 442 502 222 564
Below cutoff 2026 2175 1378 420 996 265 3367 1995 3090 233 857 898 158 982 2131 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001353179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BN000128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318184   ⟹   ENSP00000326708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1229,427,571 - 29,497,686 (-)Ensembl
RefSeq Acc Id: ENST00000537054   ⟹   ENSP00000445480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1229,439,853 - 29,497,686 (-)Ensembl
RefSeq Acc Id: ENST00000539117   ⟹   ENSP00000445260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1229,412,474 - 29,444,268 (-)Ensembl
RefSeq Acc Id: ENST00000696934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1229,440,531 - 29,485,343 (-)Ensembl
RefSeq Acc Id: NM_001353179   ⟹   NP_001340108
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,439,853 - 29,497,686 (-)NCBI
T2T-CHM13v2.01229,311,995 - 29,369,816 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520638   ⟹   XP_011518940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,439,853 - 29,497,686 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520640   ⟹   XP_011518942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,457,745 - 29,497,686 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520641   ⟹   XP_011518943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,455,318 - 29,497,686 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520642   ⟹   XP_011518944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,461,917 - 29,497,686 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019256   ⟹   XP_016874745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,447,325 - 29,497,686 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448968   ⟹   XP_024304736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,402,168 - 29,497,686 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448969   ⟹   XP_024304737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,473,221 - 29,497,686 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428777   ⟹   XP_047284733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,445,313 - 29,497,686 (-)NCBI
RefSeq Acc Id: XM_047428778   ⟹   XP_047284734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,445,348 - 29,497,686 (-)NCBI
RefSeq Acc Id: XM_047428779   ⟹   XP_047284735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,445,320 - 29,497,686 (-)NCBI
RefSeq Acc Id: XM_047428780   ⟹   XP_047284736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,402,168 - 29,478,954 (-)NCBI
RefSeq Acc Id: XM_047428781   ⟹   XP_047284737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,471,969 - 29,497,686 (-)NCBI
RefSeq Acc Id: XM_054371939   ⟹   XP_054227914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01229,292,751 - 29,369,816 (-)NCBI
RefSeq Acc Id: XM_054371940   ⟹   XP_054227915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01229,311,995 - 29,369,816 (-)NCBI
RefSeq Acc Id: XM_054371941   ⟹   XP_054227916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01229,319,466 - 29,369,816 (-)NCBI
RefSeq Acc Id: XM_054371942   ⟹   XP_054227917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01229,329,881 - 29,369,816 (-)NCBI
RefSeq Acc Id: XM_054371943   ⟹   XP_054227918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01229,327,459 - 29,369,816 (-)NCBI
RefSeq Acc Id: XM_054371944   ⟹   XP_054227919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01229,334,050 - 29,369,816 (-)NCBI
RefSeq Acc Id: XM_054371945   ⟹   XP_054227920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01229,345,354 - 29,369,816 (-)NCBI
RefSeq Acc Id: XR_008488573
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01229,317,455 - 29,369,816 (-)NCBI
RefSeq Acc Id: XR_008488574
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01229,317,490 - 29,369,816 (-)NCBI
RefSeq Acc Id: XR_008488575
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01229,317,462 - 29,369,816 (-)NCBI
RefSeq Acc Id: XR_008488576
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01229,274,652 - 29,351,088 (-)NCBI
RefSeq Acc Id: XR_008488577
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01229,344,101 - 29,369,816 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001340108 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518940 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518942 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518943 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518944 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874745 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304736 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304737 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284733 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284734 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284735 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284736 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284737 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227914 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227915 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227916 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227917 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227918 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227919 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227920 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein CAD67579 (Get FASTA)   NCBI Sequence Viewer  
  EAW96595 (Get FASTA)   NCBI Sequence Viewer  
  EAW96596 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000326708.5
  ENSP00000445260.1
  ENSP00000445480
  ENSP00000445480.2
GenBank Protein Q7RTY7 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: XP_011518940   ⟸   XM_011520638
- Peptide Label: isoform X2
- UniProtKB: Q7RTY7 (UniProtKB/Swiss-Prot),   H0YH00 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518943   ⟸   XM_011520641
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011518942   ⟸   XM_011520640
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011518944   ⟸   XM_011520642
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016874745   ⟸   XM_017019256
- Peptide Label: isoform X3
- UniProtKB: Q7RTY7 (UniProtKB/Swiss-Prot),   H0YH00 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024304736   ⟸   XM_024448968
- Peptide Label: isoform X1
- UniProtKB: Q7RTY7 (UniProtKB/Swiss-Prot),   H0YH00 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001340108   ⟸   NM_001353179
- Peptide Label: precursor
- UniProtKB: Q7RTY7 (UniProtKB/Swiss-Prot),   H0YH00 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304737   ⟸   XM_024448969
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000445480   ⟸   ENST00000537054
RefSeq Acc Id: ENSP00000445260   ⟸   ENST00000539117
RefSeq Acc Id: ENSP00000326708   ⟸   ENST00000318184
RefSeq Acc Id: XP_047284736   ⟸   XM_047428780
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047284733   ⟸   XM_047428777
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047284735   ⟸   XM_047428779
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047284734   ⟸   XM_047428778
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047284737   ⟸   XM_047428781
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054227914   ⟸   XM_054371939
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227915   ⟸   XM_054371940
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227916   ⟸   XM_054371941
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054227918   ⟸   XM_054371943
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227917   ⟸   XM_054371942
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227919   ⟸   XM_054371944
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054227920   ⟸   XM_054371945
- Peptide Label: isoform X7
Protein Domains
CUB   Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7RTY7-F1-model_v2 AlphaFold Q7RTY7 1-1134 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23080 AgrOrtholog
COSMIC OVCH1 COSMIC
Ensembl Genes ENSG00000187950 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000318184.9 UniProtKB/Swiss-Prot
  ENST00000537054 ENTREZGENE
  ENST00000537054.2 UniProtKB/Swiss-Prot
  ENST00000539117.5 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot
  2.60.120.290 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000187950 GTEx
HGNC ID HGNC:23080 ENTREZGENE
Human Proteome Map OVCH1 Human Proteome Map
InterPro CUB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot
  Peptidase_S1A UniProtKB/Swiss-Prot
  Sperma_CUB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot
NCBI Gene 341350 ENTREZGENE
PANTHER ACROSIN UniProtKB/Swiss-Prot
  ACROSIN-RELATED UniProtKB/Swiss-Prot
Pfam CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin UniProtKB/Swiss-Prot
PharmGKB PA134910581 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot
PROSITE CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_DOM UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot
SMART CUB UniProtKB/Swiss-Prot
  Tryp_SPc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49854 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50494 UniProtKB/Swiss-Prot
UniProt H0YGY6_HUMAN UniProtKB/TrEMBL
  H0YH00 ENTREZGENE
  OVCH1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary H0YH00 UniProtKB/Swiss-Prot