OC90 (otoconin 90) - Rat Genome Database

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Gene: OC90 (otoconin 90) Homo sapiens
Analyze
Symbol: OC90
Name: otoconin 90
RGD ID: 1606848
HGNC Page HGNC
Description: Predicted to have calcium ion binding activity and structural molecule activity. Predicted to be involved in otolith mineralization. Predicted to localize to extracellular matrix; INTERACTS WITH aflatoxin B1; aflatoxin B2; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: otoconin-90; phospholipase A2 homolog; phospholipase A2-like; PLA2L
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38.p13 Ensembl8132,024,216 - 132,059,382 (-)EnsemblGRCh38hg38GRCh38
GRCh388132,024,216 - 132,059,382 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,036,463 - 133,071,629 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,105,910 - 133,131,298 (-)NCBINCBI36hg18NCBI36
Celera8129,212,212 - 129,247,331 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8128,354,049 - 128,389,180 (-)NCBIHuRef
CHM1_18133,076,804 - 133,112,437 (-)NCBICHM1_1
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

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8382789   PMID:9860971   PMID:10329003   PMID:15188402   PMID:21873635   PMID:24556642   PMID:24748133  


Genomics

Comparative Map Data
OC90
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8132,024,216 - 132,059,382 (-)EnsemblGRCh38hg38GRCh38
GRCh388132,024,216 - 132,059,382 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,036,463 - 133,071,629 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,105,910 - 133,131,298 (-)NCBINCBI36hg18NCBI36
Celera8129,212,212 - 129,247,331 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8128,354,049 - 128,389,180 (-)NCBIHuRef
CHM1_18133,076,804 - 133,112,437 (-)NCBICHM1_1
Oc90
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391565,747,899 - 65,784,260 (-)NCBIGRCm39mm39
GRCm39 Ensembl1565,747,902 - 65,784,246 (-)Ensembl
GRCm381565,876,050 - 65,912,411 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1565,876,053 - 65,912,397 (-)EnsemblGRCm38mm10GRCm38
MGSCv371565,707,619 - 65,740,615 (-)NCBIGRCm37mm9NCBIm37
MGSCv361565,705,730 - 65,738,726 (-)NCBImm8
Celera1567,383,723 - 67,416,687 (-)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1529.16NCBI
Oc90
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2797,635,890 - 97,669,416 (-)NCBI
Rnor_6.0 Ensembl7106,619,326 - 106,653,567 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07106,615,859 - 106,697,089 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07106,389,398 - 106,417,375 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47103,230,625 - 103,264,151 (-)NCBIRGSC3.4rn4RGSC3.4
Celera794,190,792 - 94,224,290 (-)NCBICelera
Cytogenetic Map7q33-q34NCBI
Oc90
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554616,697,930 - 6,729,764 (-)NCBIChiLan1.0ChiLan1.0
OC90
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18131,650,395 - 131,685,172 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08128,672,427 - 128,708,307 (-)NCBIMhudiblu_PPA_v0panPan3
OC90
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11328,680,910 - 28,700,816 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1328,653,732 - 28,681,822 (-)NCBI
ROS_Cfam_1.01329,035,487 - 29,060,155 (-)NCBI
UMICH_Zoey_3.11328,762,634 - 28,790,706 (-)NCBI
UNSW_CanFamBas_1.01328,862,287 - 28,886,939 (-)NCBI
UU_Cfam_GSD_1.01329,174,271 - 29,198,930 (-)NCBI
Oc90
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053039,642,906 - 9,673,254 (+)NCBI
SpeTri2.0NW_00493647017,072,435 - 17,099,520 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OC90
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.149,028,483 - 9,054,503 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.249,060,872 - 9,089,157 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OC90
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18126,468,666 - 126,500,293 (-)NCBI
Oc90
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473523,829,050 - 23,856,026 (+)NCBI

Position Markers
SHGC-82157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,057,173 - 133,057,457UniSTSGRCh37
Build 368133,126,355 - 133,126,639RGDNCBI36
Celera8129,232,877 - 129,233,161RGD
Cytogenetic Map8q24.22UniSTS
HuRef8128,374,726 - 128,375,010UniSTS
TNG Radiation Hybrid Map864737.0UniSTS
SHGC-148026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,061,285 - 133,061,588UniSTSGRCh37
Build 368133,130,467 - 133,130,770RGDNCBI36
Celera8129,236,989 - 129,237,292RGD
Cytogenetic Map8q24.22UniSTS
HuRef8128,378,838 - 128,379,141UniSTS
TNG Radiation Hybrid Map864714.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:703
Count of miRNA genes:224
Interacting mature miRNAs:233
Transcripts:ENST00000254627, ENST00000443356, ENST00000603859
Prediction methods: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.


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 visual system adipose tissue appendage
High
Medium 1
Low 1 1 1 15 107 28 2 1 1 4
Below cutoff 303 286 531 20 87 9 882 221 2050 16 416 425 11 334 325

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000254627   ⟹   ENSP00000254627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,024,216 - 132,059,382 (-)Ensembl
RefSeq Acc Id: NM_001080399   ⟹   NP_001073868
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,024,216 - 132,059,382 (-)NCBI
GRCh378133,036,467 - 133,071,627 (-)RGD
Build 368133,105,910 - 133,131,298 (-)NCBI Archive
Celera8129,212,212 - 129,247,331 (-)RGD
HuRef8128,354,049 - 128,389,180 (-)ENTREZGENE
CHM1_18133,076,804 - 133,112,437 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001073868 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAG60230 (Get FASTA)   NCBI Sequence Viewer  
  Q02509 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001073868   ⟸   NM_001080399
- Peptide Label: precursor
- UniProtKB: Q02509 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000254627   ⟸   ENST00000254627


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
NM_001080399.2(OC90):c.769A>G (p.Lys257Glu) single nucleotide variant Malignant melanoma [RCV000068157] Chr8:132033129 [GRCh38]
Chr8:133045376 [GRCh37]
Chr8:133114558 [NCBI36]
Chr8:8q24.22
not provided
GRCh37/hg19 8q24.22(chr8:132005210-133698781)x3 copy number gain See cases [RCV000515570] Chr8:132005210..133698781 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.22(chr8:131770098-132203964)x3 copy number gain See cases [RCV000133767] Chr8:131770098..132203964 [GRCh38]
Chr8:132782345..133216211 [GRCh37]
Chr8:132851527..133285393 [NCBI36]
Chr8:8q24.22
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:128295596-133200773)x1 copy number loss See cases [RCV000448960] Chr8:128295596..133200773 [GRCh37]
Chr8:8q24.21-24.22
likely pathogenic
GRCh37/hg19 8q24.22(chr8:132812614-133245950)x3 copy number gain See cases [RCV000448346] Chr8:132812614..133245950 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:131025817-133947836)x3 copy number gain See cases [RCV000511900] Chr8:131025817..133947836 [GRCh37]
Chr8:8q24.21-24.22
uncertain significance
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:132822037-133262048)x3 copy number gain not provided [RCV000747858] Chr8:132822037..133262048 [GRCh37]
Chr8:8q24.22
benign
GRCh37/hg19 8q24.22(chr8:133060649-133061606)x1 copy number loss not provided [RCV000747859] Chr8:133060649..133061606 [GRCh37]
Chr8:8q24.22
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:132588071-133169753)x3 copy number gain not provided [RCV000848381] Chr8:132588071..133169753 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1 copy number loss not provided [RCV000845974] Chr8:131915430..135240074 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.22(chr8:132812544-133251797)x3 copy number gain not provided [RCV000846636] Chr8:132812544..133251797 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8100 AgrOrtholog
COSMIC OC90 COSMIC
Ensembl Genes ENSG00000253117 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000254627 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000254627 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.90.10 UniProtKB/Swiss-Prot
GTEx ENSG00000253117 GTEx
HGNC ID HGNC:8100 ENTREZGENE
Human Proteome Map OC90 Human Proteome Map
InterPro Otoconin-90 UniProtKB/Swiss-Prot
  PLipase_A2 UniProtKB/Swiss-Prot
  PLipase_A2_Asp_AS UniProtKB/Swiss-Prot
  PLipase_A2_dom UniProtKB/Swiss-Prot
  PLipase_A2_dom_sf UniProtKB/Swiss-Prot
  PLipase_A2_His_AS UniProtKB/Swiss-Prot
KEGG Report hsa:729330 UniProtKB/Swiss-Prot
NCBI Gene 729330 ENTREZGENE
OMIM 601658 OMIM
PANTHER PTHR11716 UniProtKB/Swiss-Prot
Pfam Phospholip_A2_1 UniProtKB/Swiss-Prot
PharmGKB PA31889 PharmGKB
PRINTS PHPHLIPASEA2 UniProtKB/Swiss-Prot
PROSITE PA2_ASP UniProtKB/Swiss-Prot
  PA2_HIS UniProtKB/Swiss-Prot
SMART PA2c UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48619 UniProtKB/Swiss-Prot
UniProt OC90_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DNG8 UniProtKB/Swiss-Prot