TMEM65 (transmembrane protein 65) - Rat Genome Database

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Gene: TMEM65 (transmembrane protein 65) Homo sapiens
Analyze
Symbol: TMEM65
Name: transmembrane protein 65
RGD ID: 1603356
HGNC Page HGNC
Description: Predicted to be involved in cardiac ventricle development and regulation of cardiac conduction. Localizes to intercalated disc; mitochondrial inner membrane; and plasma membrane; INTERACTS WITH antirheumatic drug; benzo[a]pyrene diol epoxide I; carbamazepine.
Type: protein-coding
RefSeq Status: VALIDATED
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 Ensembl8124,306,189 - 124,372,701 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8124,306,189 - 124,372,692 (-)EnsemblGRCh38hg38GRCh38
GRCh388124,306,189 - 124,372,701 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378125,318,430 - 125,384,942 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368125,392,340 - 125,454,121 (-)NCBINCBI36hg18NCBI36
Celera8121,511,293 - 121,573,166 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8120,650,408 - 120,670,285 (-)NCBIHuRef
CHM1_18125,363,524 - 125,425,289 (-)NCBICHM1_1
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

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:15489334   PMID:19322201   PMID:20877624   PMID:22939629   PMID:24623722   PMID:24765583   PMID:26354767   PMID:26403541   PMID:27499296  
PMID:28295037   PMID:28514442   PMID:29180619   PMID:29509190   PMID:31617661   PMID:32296183  


Genomics

Comparative Map Data
TMEM65
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8124,306,189 - 124,372,701 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8124,306,189 - 124,372,692 (-)EnsemblGRCh38hg38GRCh38
GRCh388124,306,189 - 124,372,701 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378125,318,430 - 125,384,942 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368125,392,340 - 125,454,121 (-)NCBINCBI36hg18NCBI36
Celera8121,511,293 - 121,573,166 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8120,650,408 - 120,670,285 (-)NCBIHuRef
CHM1_18125,363,524 - 125,425,289 (-)NCBICHM1_1
Tmem65
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391558,654,118 - 58,695,510 (-)NCBIGRCm39mm39
GRCm39 Ensembl1558,654,118 - 58,695,487 (-)Ensembl
GRCm381558,782,269 - 58,823,663 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,782,269 - 58,823,638 (-)EnsemblGRCm38mm10GRCm38
MGSCv371558,613,824 - 58,654,982 (-)NCBIGRCm37mm9NCBIm37
MGSCv361558,612,352 - 58,653,510 (-)NCBImm8
Celera1560,311,677 - 60,352,685 (-)NCBICelera
Cytogenetic Map15D1NCBI
Tmem65
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2790,336,997 - 90,378,930 (-)NCBI
Rnor_6.0 Ensembl798,605,722 - 98,709,649 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0798,668,589 - 98,709,613 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0799,270,336 - 99,310,327 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4795,545,429 - 95,587,199 (-)NCBIRGSC3.4rn4RGSC3.4
Celera787,102,931 - 87,143,627 (-)NCBICelera
Cytogenetic Map7q33NCBI
Tmem65
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555403,007,879 - 3,064,919 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555403,006,776 - 3,064,938 (-)NCBIChiLan1.0ChiLan1.0
TMEM65
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18123,747,053 - 123,791,955 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08120,993,261 - 121,059,743 (-)NCBIMhudiblu_PPA_v0panPan3
TMEM65
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11322,426,487 - 22,494,520 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1322,426,793 - 22,494,520 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1322,392,169 - 22,459,957 (-)NCBI
ROS_Cfam_1.01322,749,249 - 22,836,557 (-)NCBI
UMICH_Zoey_3.11322,475,985 - 22,556,509 (-)NCBI
UNSW_CanFamBas_1.01322,579,557 - 22,666,788 (-)NCBI
UU_Cfam_GSD_1.01322,822,017 - 22,909,339 (-)NCBI
Tmem65
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530315,821,641 - 15,855,329 (+)NCBI
SpeTri2.0NW_00493647023,247,722 - 23,284,894 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM65
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl415,263,333 - 15,385,307 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1415,263,400 - 15,317,350 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2415,896,004 - 15,938,113 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM65
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18118,883,409 - 118,944,834 (-)NCBI
Tmem65
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473530,805,189 - 30,868,059 (+)NCBI

Position Markers
SHGC-111940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,345,932 - 125,346,215UniSTSGRCh37
Build 368125,415,113 - 125,415,396RGDNCBI36
Celera8121,534,060 - 121,534,343RGD
Cytogenetic Map8q24.13UniSTS
HuRef8120,673,182 - 120,673,465UniSTS
TNG Radiation Hybrid Map860791.0UniSTS
SHGC-145074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,387,368 - 125,387,710UniSTSGRCh37
Build 368125,456,549 - 125,456,891RGDNCBI36
Celera8121,575,594 - 121,575,936RGD
Cytogenetic Map8q24.13UniSTS
HuRef8120,714,711 - 120,715,053UniSTS
TNG Radiation Hybrid Map860813.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:590
Count of miRNA genes:421
Interacting mature miRNAs:460
Transcripts:ENST00000297632
Prediction methods:Miranda
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 entire extraembryonic component pharyngeal arch
High
Medium 165 217 480 88 273 80 1149 432 717 232 457 725 20 51 636
Low 2274 2704 1245 536 1592 385 3207 1763 3005 185 1000 888 155 1 1153 2152 5 2
Below cutoff 70 86 2 11 2 3 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000297632   ⟹   ENSP00000297632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,306,189 - 124,372,692 (-)Ensembl
RefSeq Acc Id: NM_194291   ⟹   NP_919267
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,306,189 - 124,372,701 (-)NCBI
GRCh378125,323,159 - 125,384,940 (-)RGD
Build 368125,392,340 - 125,454,121 (-)NCBI Archive
Celera8121,511,293 - 121,573,166 (-)RGD
HuRef8120,650,408 - 120,670,285 (-)NCBI
CHM1_18125,363,524 - 125,425,289 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_919267 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH17881 (Get FASTA)   NCBI Sequence Viewer  
  AAH32396 (Get FASTA)   NCBI Sequence Viewer  
  AAH41379 (Get FASTA)   NCBI Sequence Viewer  
  EAW92061 (Get FASTA)   NCBI Sequence Viewer  
  Q6PI78 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_919267   ⟸   NM_194291
- UniProtKB: Q6PI78 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000297632   ⟸   ENST00000297632

Promoters
RGD ID:7214147
Promoter ID:EPDNEW_H12818
Type:initiation region
Name:TMEM65_2
Description:transmembrane protein 65
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12819  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,372,442 - 124,372,502EPDNEW
RGD ID:7214145
Promoter ID:EPDNEW_H12819
Type:initiation region
Name:TMEM65_1
Description:transmembrane protein 65
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12818  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,372,700 - 124,372,760EPDNEW
RGD ID:6807063
Promoter ID:HG_KWN:62053
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_194291
Position:
Human AssemblyChrPosition (strand)Source
Build 368125,453,964 - 125,454,464 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3 copy number gain See cases [RCV000050762] Chr8:124125245..125337217 [GRCh38]
Chr8:125137486..126349459 [GRCh37]
Chr8:125206667..126418641 [NCBI36]
Chr8:8q24.13
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 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 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 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
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 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 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 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 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 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 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
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 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 8q24.13(chr8:125129829-125384737)x3 copy number gain See cases [RCV000447786] Chr8:125129829..125384737 [GRCh37]
Chr8:8q24.13
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 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
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
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 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 8q24.13(chr8:125310755-125983817)x3 copy number gain not provided [RCV000848433] Chr8:125310755..125983817 [GRCh37]
Chr8:8q24.13
uncertain significance
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 8q24.13-24.22(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 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
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
GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3 copy number gain not provided [RCV001006141] Chr8:124878368..126737708 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 copy number loss not provided [RCV001281354] Chr8:121938227..125485728 [GRCh37]
Chr8:8q24.12-24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25203 AgrOrtholog
COSMIC TMEM65 COSMIC
Ensembl Genes ENSG00000164983 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000297632 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297632 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000164983 GTEx
HGNC ID HGNC:25203 ENTREZGENE
Human Proteome Map TMEM65 Human Proteome Map
InterPro TMEM65 UniProtKB/Swiss-Prot
KEGG Report hsa:157378 UniProtKB/Swiss-Prot
NCBI Gene 157378 ENTREZGENE
OMIM 616609 OMIM
PANTHER PTHR21706 UniProtKB/Swiss-Prot
Pfam TMEM65 UniProtKB/Swiss-Prot
PharmGKB PA142670778 PharmGKB
UniProt Q6PI78 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q8N5G8 UniProtKB/Swiss-Prot
  Q8WVK5 UniProtKB/Swiss-Prot