TMEM71 (transmembrane protein 71) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TMEM71 (transmembrane protein 71) Homo sapiens
Analyze
Symbol: TMEM71
Name: transmembrane protein 71
RGD ID: 1606965
HGNC Page HGNC
Description: Localizes to mitochondrion; INTERACTS WITH benzo[a]pyrene; benzo[e]pyrene; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ33069; MGC111188
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 Ensembl8132,685,007 - 132,760,712 (-)EnsemblGRCh38hg38GRCh38
GRCh388132,705,839 - 132,775,999 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,718,085 - 133,788,245 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,791,376 - 133,842,010 (-)NCBINCBI36hg18NCBI36
Celera8129,896,999 - 129,948,734 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8129,040,662 - 129,091,279 (-)NCBIHuRef
CHM1_18133,762,980 - 133,813,571 (-)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

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:20676127   PMID:31180187   PMID:32296183  


Genomics

Comparative Map Data
TMEM71
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8132,685,007 - 132,760,712 (-)EnsemblGRCh38hg38GRCh38
GRCh388132,705,839 - 132,775,999 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,718,085 - 133,788,245 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,791,376 - 133,842,010 (-)NCBINCBI36hg18NCBI36
Celera8129,896,999 - 129,948,734 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8129,040,662 - 129,091,279 (-)NCBIHuRef
CHM1_18133,762,980 - 133,813,571 (-)NCBICHM1_1
Tmem71
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391566,398,061 - 66,433,085 (-)NCBIGRCm39mm39
GRCm39 Ensembl1566,398,061 - 66,432,952 (-)Ensembl
GRCm381566,526,212 - 66,561,236 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1566,526,212 - 66,561,103 (-)EnsemblGRCm38mm10GRCm38
MGSCv371566,357,774 - 66,392,608 (-)NCBIGRCm37mm9NCBIm37
MGSCv361566,355,881 - 66,390,715 (-)NCBImm8
Celera1568,058,097 - 68,092,942 (-)NCBICelera
Cytogenetic Map15D1NCBI
Tmem71
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2798,276,975 - 98,323,161 (-)NCBI
Rnor_6.0 Ensembl7107,262,929 - 107,392,972 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07107,264,235 - 107,392,808 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07107,306,269 - 107,331,585 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.07107,207,598 - 107,213,563 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47103,883,566 - 103,931,188 (-)NCBIRGSC3.4rn4RGSC3.4
Celera794,830,680 - 94,868,380 (-)NCBICelera
Cytogenetic Map7q34NCBI
Tmem71
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554617,367,376 - 7,392,337 (-)NCBIChiLan1.0ChiLan1.0
TMEM71
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18132,339,621 - 132,388,442 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8132,339,621 - 132,388,523 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08129,363,661 - 129,429,101 (-)NCBIMhudiblu_PPA_v0panPan3
TMEM71
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11329,217,384 - 29,249,145 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1329,218,733 - 29,249,289 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1329,190,267 - 29,234,455 (-)NCBI
ROS_Cfam_1.01329,571,599 - 29,616,265 (-)NCBI
UMICH_Zoey_3.11329,298,584 - 29,342,941 (-)NCBI
UNSW_CanFamBas_1.01329,398,731 - 29,443,322 (-)NCBI
UU_Cfam_GSD_1.01329,710,837 - 29,755,316 (-)NCBI
Tmem71
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053039,024,148 - 9,102,595 (+)NCBI
SpeTri2.0NW_00493647016,490,824 - 16,528,640 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM71
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl48,486,002 - 8,516,296 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.148,467,572 - 8,516,316 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.248,532,046 - 8,556,579 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM71
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18127,136,525 - 127,186,052 (-)NCBI
ChlSab1.1 Ensembl8127,136,414 - 127,186,051 (-)Ensembl
Tmem71
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473523,171,402 - 23,265,855 (+)NCBI

Position Markers
RH76737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,722,229 - 133,722,467UniSTSGRCh37
Build 368133,791,411 - 133,791,649RGDNCBI36
Celera8129,897,037 - 129,897,275RGD
Cytogenetic Map8q24.22UniSTS
HuRef8129,040,700 - 129,040,938UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2038
Count of miRNA genes:685
Interacting mature miRNAs:778
Transcripts:ENST00000356838, ENST00000377901, ENST00000517538, ENST00000519016, ENST00000519187, ENST00000519304, ENST00000522334, ENST00000522594, ENST00000522780, ENST00000523829, ENST00000524079
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.


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 455 1141 7 13 1131 1 39 398 31 2 17 226 13 13 27
Low 1820 1825 1457 504 364 359 3360 1265 1748 282 1197 1206 151 1183 2132 1 1
Below cutoff 89 25 250 96 248 94 793 525 1912 109 202 75 8 1 8 629 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF228727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF257497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG505962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356838   ⟹   ENSP00000349296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,709,948 - 132,760,582 (-)Ensembl
RefSeq Acc Id: ENST00000377901   ⟹   ENSP00000367133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,709,948 - 132,760,582 (-)Ensembl
RefSeq Acc Id: ENST00000517538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,747,044 - 132,760,576 (-)Ensembl
RefSeq Acc Id: ENST00000519016   ⟹   ENSP00000428397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,747,014 - 132,760,630 (-)Ensembl
RefSeq Acc Id: ENST00000519187   ⟹   ENSP00000429873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,751,802 - 132,760,548 (-)Ensembl
RefSeq Acc Id: ENST00000519304   ⟹   ENSP00000430239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,751,824 - 132,760,582 (-)Ensembl
RefSeq Acc Id: ENST00000522334   ⟹   ENSP00000430847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,746,948 - 132,760,630 (-)Ensembl
RefSeq Acc Id: ENST00000522594
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,758,374 - 132,760,712 (-)Ensembl
RefSeq Acc Id: ENST00000522780   ⟹   ENSP00000428772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,685,007 - 132,727,986 (-)Ensembl
RefSeq Acc Id: ENST00000523829   ⟹   ENSP00000428228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,709,945 - 132,760,561 (-)Ensembl
RefSeq Acc Id: ENST00000524079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,685,007 - 132,702,239 (-)Ensembl
RefSeq Acc Id: ENST00000677595   ⟹   ENSP00000504388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,709,941 - 132,760,582 (-)Ensembl
RefSeq Acc Id: NM_001145153   ⟹   NP_001138625
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,709,941 - 132,760,582 (-)NCBI
GRCh378133,722,191 - 133,772,914 (-)RGD
Celera8129,896,999 - 129,948,734 (-)RGD
HuRef8129,040,662 - 129,091,279 (-)ENTREZGENE
CHM1_18133,762,980 - 133,813,571 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364885   ⟹   NP_001351814
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,709,941 - 132,760,582 (-)NCBI
RefSeq Acc Id: NM_001382396   ⟹   NP_001369325
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,705,839 - 132,760,582 (-)NCBI
RefSeq Acc Id: NM_001382397   ⟹   NP_001369326
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,709,941 - 132,775,999 (-)NCBI
RefSeq Acc Id: NM_001382398   ⟹   NP_001369327
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,709,941 - 132,760,582 (-)NCBI
RefSeq Acc Id: NM_001382399   ⟹   NP_001369328
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,709,941 - 132,760,582 (-)NCBI
RefSeq Acc Id: NM_001382400   ⟹   NP_001369329
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,709,941 - 132,760,582 (-)NCBI
RefSeq Acc Id: NM_001382401   ⟹   NP_001369330
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,709,941 - 132,760,582 (-)NCBI
RefSeq Acc Id: NM_001382402   ⟹   NP_001369331
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,709,941 - 132,760,582 (-)NCBI
RefSeq Acc Id: NM_001382403   ⟹   NP_001369332
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,709,941 - 132,760,582 (-)NCBI
RefSeq Acc Id: NM_001382404   ⟹   NP_001369333
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,709,941 - 132,760,582 (-)NCBI
RefSeq Acc Id: NM_001382405   ⟹   NP_001369334
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,709,941 - 132,760,582 (-)NCBI
RefSeq Acc Id: NM_144649   ⟹   NP_653250
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,709,941 - 132,760,582 (-)NCBI
GRCh378133,722,191 - 133,772,914 (-)RGD
Build 368133,791,376 - 133,842,010 (-)NCBI Archive
Celera8129,896,999 - 129,948,734 (-)RGD
HuRef8129,040,662 - 129,091,279 (-)ENTREZGENE
CHM1_18133,762,980 - 133,813,571 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_653250   ⟸   NM_144649
- Peptide Label: isoform 1
- UniProtKB: Q6P5X7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138625   ⟸   NM_001145153
- Peptide Label: isoform 2
- UniProtKB: Q6P5X7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001351814   ⟸   NM_001364885
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001369325   ⟸   NM_001382396
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001369326   ⟸   NM_001382397
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001369327   ⟸   NM_001382398
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001369332   ⟸   NM_001382403
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001369330   ⟸   NM_001382401
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001369329   ⟸   NM_001382400
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001369328   ⟸   NM_001382399
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001369334   ⟸   NM_001382405
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001369333   ⟸   NM_001382404
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001369331   ⟸   NM_001382402
- Peptide Label: isoform 5
RefSeq Acc Id: ENSP00000428397   ⟸   ENST00000519016
RefSeq Acc Id: ENSP00000430239   ⟸   ENST00000519304
RefSeq Acc Id: ENSP00000429873   ⟸   ENST00000519187
RefSeq Acc Id: ENSP00000367133   ⟸   ENST00000377901
RefSeq Acc Id: ENSP00000430847   ⟸   ENST00000522334
RefSeq Acc Id: ENSP00000428772   ⟸   ENST00000522780
RefSeq Acc Id: ENSP00000428228   ⟸   ENST00000523829
RefSeq Acc Id: ENSP00000349296   ⟸   ENST00000356838
RefSeq Acc Id: ENSP00000504388   ⟸   ENST00000677595

Promoters
RGD ID:7214203
Promoter ID:EPDNEW_H12847
Type:initiation region
Name:TMEM71_1
Description:transmembrane protein 71
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
GRCh388132,760,582 - 132,760,642EPDNEW
RGD ID:6806671
Promoter ID:HG_KWN:62127
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour
Transcripts:ENST00000377901,   ENST00000395403,   ENST00000395406,   NM_001145153,   NM_144649,   UC003YTP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368133,841,946 - 133,842,446 (-)MPROMDB

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
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 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 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 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
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 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 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 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 8q24.22-24.3(chr8:133621137-140433338)x1 copy number loss not provided [RCV000747861] Chr8:133621137..140433338 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
NC_000008.10:g.(?_133141489)_(134296574_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV000804620] Chr8:133141489..134296574 [GRCh37]
Chr8:8q24.22
uncertain significance
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
t(8;9)(q24.22;q34.13) translocation Pancreatic Neoplasms [RCV000767229] Chr9:135791198..135791199 [GRCh37]
Chr8:133731583..133731584 [GRCh37]
Chr8:8q24.22
Chr9:9q34.13
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 8q24.22(chr8:131915430-135240074)x1 copy number loss not provided [RCV000845974] Chr8:131915430..135240074 [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 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 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 8q24.22(chr8:133176537-133891988)x1 copy number loss not provided [RCV001259030] Chr8:133176537..133891988 [GRCh37]
Chr8:8q24.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26572 AgrOrtholog
COSMIC TMEM71 COSMIC
Ensembl Genes ENSG00000165071 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000349296 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367133 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428228 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000428397 UniProtKB/TrEMBL
  ENSP00000428772 UniProtKB/TrEMBL
  ENSP00000429873 UniProtKB/TrEMBL
  ENSP00000430239 UniProtKB/TrEMBL
  ENSP00000430847 UniProtKB/TrEMBL
  ENSP00000504388 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000356838 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377901 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519016 UniProtKB/TrEMBL
  ENST00000519187 UniProtKB/TrEMBL
  ENST00000519304 UniProtKB/TrEMBL
  ENST00000522334 UniProtKB/TrEMBL
  ENST00000522780 UniProtKB/TrEMBL
  ENST00000523829 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000677595 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000165071 GTEx
HGNC ID HGNC:26572 ENTREZGENE
Human Proteome Map TMEM71 Human Proteome Map
InterPro TMEM71 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:137835 UniProtKB/Swiss-Prot
NCBI Gene 137835 ENTREZGENE
PANTHER PTHR35255 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TMEM71 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670784 PharmGKB
UniProt E5RGD3_HUMAN UniProtKB/TrEMBL
  E5RH69_HUMAN UniProtKB/TrEMBL
  E5RHR5_HUMAN UniProtKB/TrEMBL
  E5RIQ3_HUMAN UniProtKB/TrEMBL
  E5RJJ0_HUMAN UniProtKB/TrEMBL
  H0YB65_HUMAN UniProtKB/TrEMBL
  Q6P5X7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q3KRC2 UniProtKB/Swiss-Prot
  Q8WVZ4 UniProtKB/Swiss-Prot
  Q96LX9 UniProtKB/Swiss-Prot