RNF139 (ring finger protein 139) - Rat Genome Database

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Gene: RNF139 (ring finger protein 139) Homo sapiens
Analyze
Symbol: RNF139
Name: ring finger protein 139
RGD ID: 1315417
HGNC Page HGNC
Description: Exhibits protease binding activity and ubiquitin-protein transferase activity. Involved in several processes, including cellular protein metabolic process; protein destabilization; and regulation of protein metabolic process. Localizes to Derlin-1 retrotranslocation complex. Implicated in renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: E3 ubiquitin-protein ligase RNF139; HRCA1; MGC31961; multiple membrane spanning receptor TRC8; patched related protein translocated in renal cancer; RCA1; RING-type E3 ubiquitin transferase RNF139; translocation in renal carcinoma on chromosome 8 protein; translocation in renal carcinoma, chromosome 8; TRC8
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 Ensembl8124,474,880 - 124,488,618 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8124,474,738 - 124,487,914 (+)EnsemblGRCh38hg38GRCh38
GRCh388124,474,880 - 124,488,618 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378125,487,121 - 125,500,859 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368125,556,189 - 125,570,040 (+)NCBINCBI36hg18NCBI36
Build 348125,556,188 - 125,570,040NCBI
Celera8121,675,173 - 121,688,974 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8120,812,471 - 120,826,584 (+)NCBIHuRef
CHM1_18125,527,264 - 125,541,113 (+)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
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8889548   PMID:10500182   PMID:12032852   PMID:12477932   PMID:14702039   PMID:15489334   PMID:17016439   PMID:17081983   PMID:19549727   PMID:19690564   PMID:19706601   PMID:19720873  
PMID:20068067   PMID:21343306   PMID:21873635   PMID:22143767   PMID:22689053   PMID:23223569   PMID:25239945   PMID:26210183   PMID:27998983   PMID:28662643   PMID:29519897   PMID:30563842  
PMID:30759391   PMID:32694731   PMID:32814053  


Genomics

Comparative Map Data
RNF139
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8124,474,880 - 124,488,618 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8124,474,738 - 124,487,914 (+)EnsemblGRCh38hg38GRCh38
GRCh388124,474,880 - 124,488,618 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378125,487,121 - 125,500,859 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368125,556,189 - 125,570,040 (+)NCBINCBI36hg18NCBI36
Build 348125,556,188 - 125,570,040NCBI
Celera8121,675,173 - 121,688,974 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8120,812,471 - 120,826,584 (+)NCBIHuRef
CHM1_18125,527,264 - 125,541,113 (+)NCBICHM1_1
Rnf139
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391558,760,975 - 58,774,239 (+)NCBIGRCm39mm39
GRCm39 Ensembl1558,761,078 - 58,778,906 (+)Ensembl
GRCm381558,889,229 - 58,902,390 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,889,229 - 58,907,057 (+)EnsemblGRCm38mm10GRCm38
MGSCv371558,720,784 - 58,733,945 (+)NCBIGRCm37mm9NCBIm37
MGSCv361558,719,381 - 58,730,937 (+)NCBImm8
MGSCv361559,311,394 - 59,322,950 (+)NCBImm8
Celera1560,427,522 - 60,431,604 (+)NCBICelera
Cytogenetic Map15D1NCBI
Rnf139
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2790,439,726 - 90,450,911 (+)NCBI
Rnor_6.0 Ensembl798,770,840 - 98,782,025 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0798,770,840 - 98,782,025 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0799,371,253 - 99,382,438 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4795,659,052 - 95,661,624 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1795,691,439 - 95,695,125 (+)NCBI
Celera787,205,052 - 87,216,237 (+)NCBICelera
Cytogenetic Map7q33NCBI
Rnf139
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555403,140,649 - 3,153,546 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555403,140,649 - 3,153,546 (+)NCBIChiLan1.0ChiLan1.0
RNF139
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18123,912,589 - 123,924,984 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8123,912,589 - 123,924,720 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08121,158,715 - 121,172,069 (+)NCBIMhudiblu_PPA_v0panPan3
RNF139
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11322,560,180 - 22,572,986 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1322,543,543 - 22,572,308 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1322,525,691 - 22,538,625 (+)NCBI
ROS_Cfam_1.01322,902,085 - 22,915,033 (+)NCBI
UMICH_Zoey_3.11322,622,475 - 22,635,430 (+)NCBI
UNSW_CanFamBas_1.01322,732,278 - 22,745,227 (+)NCBI
UU_Cfam_GSD_1.01322,975,117 - 22,988,074 (+)NCBI
Rnf139
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530315,731,213 - 15,742,466 (-)NCBI
SpeTri2.0NW_00493647023,157,312 - 23,168,565 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNF139
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl415,154,331 - 15,263,306 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1415,157,571 - 15,182,520 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2415,570,618 - 15,592,862 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RNF139
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18119,041,885 - 119,055,119 (+)NCBI
ChlSab1.1 Ensembl8119,042,223 - 119,054,486 (+)Ensembl
Vero_WHO_p1.0NW_02366603921,131,138 - 21,167,922 (-)NCBI
Rnf139
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473530,715,373 - 30,726,591 (-)NCBI

Position Markers
D8S1351E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,499,954 - 125,500,040UniSTSGRCh37
Build 368125,569,135 - 125,569,221RGDNCBI36
Celera8121,688,069 - 121,688,155RGD
Cytogenetic Map8q24UniSTS
HuRef8120,825,679 - 120,825,765UniSTS
PMC21380P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,487,434 - 125,487,516UniSTSGRCh37
Build 368125,556,615 - 125,556,697RGDNCBI36
Celera8121,675,599 - 121,675,681RGD
Cytogenetic Map8q24UniSTS
HuRef8120,812,897 - 120,812,979UniSTS
PMC21380P10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,499,117 - 125,499,471UniSTSGRCh37
Build 368125,568,298 - 125,568,652RGDNCBI36
Celera8121,687,232 - 121,687,586RGD
Cytogenetic Map8q24UniSTS
HuRef8120,824,842 - 120,825,196UniSTS
PMC21380P11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,499,425 - 125,499,769UniSTSGRCh37
Build 368125,568,606 - 125,568,950RGDNCBI36
Celera8121,687,540 - 121,687,884RGD
Cytogenetic Map8q24UniSTS
HuRef8120,825,150 - 120,825,494UniSTS
PMC21380P12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,499,715 - 125,500,039UniSTSGRCh37
Build 368125,568,896 - 125,569,220RGDNCBI36
Celera8121,687,830 - 121,688,154RGD
Cytogenetic Map8q24UniSTS
HuRef8120,825,440 - 120,825,764UniSTS
PMC21380P13  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,486,665 - 125,487,049UniSTSGRCh37
Build 368125,555,846 - 125,556,230RGDNCBI36
Celera8121,674,830 - 121,675,214RGD
Cytogenetic Map8q24UniSTS
HuRef8120,812,128 - 120,812,512UniSTS
PMC21380P14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,486,971 - 125,487,049UniSTSGRCh37
Build 368125,556,152 - 125,556,230RGDNCBI36
Celera8121,675,136 - 121,675,214RGD
Cytogenetic Map8q24UniSTS
HuRef8120,812,434 - 120,812,512UniSTS
PMC21380P15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,487,110 - 125,487,637UniSTSGRCh37
Build 368125,556,291 - 125,556,818RGDNCBI36
Celera8121,675,275 - 121,675,802RGD
Cytogenetic Map8q24UniSTS
HuRef8120,812,573 - 120,813,100UniSTS
PMC21380P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,498,003 - 125,498,319UniSTSGRCh37
Build 368125,567,184 - 125,567,500RGDNCBI36
Celera8121,686,118 - 121,686,434RGD
Cytogenetic Map8q24UniSTS
HuRef8120,823,728 - 120,824,044UniSTS
PMC21380P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,498,273 - 125,498,625UniSTSGRCh37
Build 368125,567,454 - 125,567,806RGDNCBI36
Celera8121,686,388 - 121,686,740RGD
Cytogenetic Map8q24UniSTS
HuRef8120,823,998 - 120,824,350UniSTS
PMC21380P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,498,460 - 125,498,625UniSTSGRCh37
Build 368125,567,641 - 125,567,806RGDNCBI36
Celera8121,686,575 - 121,686,740RGD
Cytogenetic Map8q24UniSTS
HuRef8120,824,185 - 120,824,350UniSTS
PMC21380P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,498,460 - 125,498,762UniSTSGRCh37
Build 368125,567,641 - 125,567,943RGDNCBI36
Celera8121,686,575 - 121,686,877RGD
Cytogenetic Map8q24UniSTS
HuRef8120,824,185 - 120,824,487UniSTS
PMC21380P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,498,666 - 125,498,762UniSTSGRCh37
Build 368125,567,847 - 125,567,943RGDNCBI36
Celera8121,686,781 - 121,686,877RGD
Cytogenetic Map8q24UniSTS
HuRef8120,824,391 - 120,824,487UniSTS
PMC21380P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,498,666 - 125,498,995UniSTSGRCh37
Build 368125,567,847 - 125,568,176RGDNCBI36
Celera8121,686,781 - 121,687,110RGD
Cytogenetic Map8q24UniSTS
HuRef8120,824,391 - 120,824,720UniSTS
PMC21380P8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,498,919 - 125,498,995UniSTSGRCh37
Build 368125,568,100 - 125,568,176RGDNCBI36
Celera8121,687,034 - 121,687,110RGD
Cytogenetic Map8q24UniSTS
HuRef8120,824,644 - 120,824,720UniSTS
PMC21380P9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,498,919 - 125,499,165UniSTSGRCh37
Build 368125,568,100 - 125,568,346RGDNCBI36
Celera8121,687,034 - 121,687,280RGD
Cytogenetic Map8q24UniSTS
HuRef8120,824,644 - 120,824,890UniSTS
RNF139_1825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,499,408 - 125,500,257UniSTSGRCh37
Build 368125,568,589 - 125,569,438RGDNCBI36
Celera8121,687,523 - 121,688,372RGD
HuRef8120,825,133 - 120,825,982UniSTS
RH12544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,485,102 - 125,485,235UniSTSGRCh37
Build 368125,554,283 - 125,554,416RGDNCBI36
Celera8121,673,267 - 121,673,400RGD
Cytogenetic Map8q24UniSTS
HuRef8120,810,565 - 120,810,698UniSTS
GeneMap99-GB4 RH Map8477.8UniSTS
NCBI RH Map81461.6UniSTS
RH48564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,499,494 - 125,499,650UniSTSGRCh37
Build 368125,568,675 - 125,568,831RGDNCBI36
Celera8121,687,609 - 121,687,765RGD
Cytogenetic Map8q24UniSTS
HuRef8120,825,219 - 120,825,375UniSTS
GeneMap99-GB4 RH Map8474.57UniSTS
NCBI RH Map81459.3UniSTS
EST3C7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,499,925 - 125,500,055UniSTSGRCh37
Build 368125,569,106 - 125,569,236RGDNCBI36
Celera8121,688,040 - 121,688,170RGD
HuRef8120,825,650 - 120,825,780UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:146
Count of miRNA genes:128
Interacting mature miRNAs:142
Transcripts:ENST00000303545, ENST00000517684
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 entire extraembryonic component pharyngeal arch
High 1
Medium 2384 2133 1645 540 1505 393 4239 1824 2821 352 1426 1606 161 1202 2672 4
Low 55 858 81 84 446 72 117 373 913 67 33 7 14 1 2 116 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA455970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI562637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM677460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM804626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD171728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ871298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000303545   ⟹   ENSP00000304051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,474,880 - 124,488,618 (+)Ensembl
RefSeq Acc Id: ENST00000517684   ⟹   ENSP00000429836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,483,345 - 124,486,234 (+)Ensembl
RefSeq Acc Id: NM_007218   ⟹   NP_009149
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,474,880 - 124,488,618 (+)NCBI
GRCh378125,487,008 - 125,500,859 (+)RGD
Build 368125,556,189 - 125,570,040 (+)NCBI Archive
Celera8121,675,173 - 121,688,974 (+)RGD
HuRef8120,812,471 - 120,826,584 (+)RGD
CHM1_18125,527,264 - 125,541,113 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_009149   ⟸   NM_007218
- UniProtKB: Q8WU17 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000429836   ⟸   ENST00000517684
RefSeq Acc Id: ENSP00000304051   ⟸   ENST00000303545

Promoters
RGD ID:7214149
Promoter ID:EPDNEW_H12820
Type:initiation region
Name:RNF139_1
Description:ring finger protein 139
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12821  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,474,767 - 124,474,827EPDNEW
RGD ID:7214151
Promoter ID:EPDNEW_H12821
Type:initiation region
Name:RNF139_2
Description:ring finger protein 139
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12820  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,474,880 - 124,474,940EPDNEW
RGD ID:6807021
Promoter ID:HG_KWN:62054
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_007218,   UC003YRB.2
Position:
Human AssemblyChrPosition (strand)Source
Build 368125,555,826 - 125,556,902 (+)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 8q24.13(chr8:124377953-124575712)x1 copy number loss See cases [RCV000052791] Chr8:124377953..124575712 [GRCh38]
Chr8:125390194..125587953 [GRCh37]
Chr8:125459375..125657134 [NCBI36]
Chr8:8q24.13
uncertain significance
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(chr8:244417-145054775)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 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 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 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
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 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(chr8:164984-146293414)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 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(chr8:125310755-125983817)x3 copy number gain not provided [RCV000848433] Chr8:125310755..125983817 [GRCh37]
Chr8:8q24.13
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 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8q24.13-24.3(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 8q24.13(chr8:124878368-126737708)x3 copy number gain not provided [RCV001006141] Chr8:124878368..126737708 [GRCh37]
Chr8:8q24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17023 AgrOrtholog
COSMIC RNF139 COSMIC
Ensembl Genes ENSG00000170881 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000304051 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429836 UniProtKB/TrEMBL
Ensembl Transcript ENST00000303545 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517684 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000170881 GTEx
HGNC ID HGNC:17023 ENTREZGENE
Human Proteome Map RNF139 Human Proteome Map
InterPro TRC8_N_dom UniProtKB/Swiss-Prot
  Znf_RING UniProtKB/Swiss-Prot
  Znf_RING-CH UniProtKB/Swiss-Prot
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot
KEGG Report hsa:11236 UniProtKB/Swiss-Prot
NCBI Gene 11236 ENTREZGENE
OMIM 144700 OMIM
  603046 OMIM
Pfam TRC8_N UniProtKB/Swiss-Prot
  zf-RING_2 UniProtKB/Swiss-Prot
PharmGKB PA134945850 PharmGKB
PROSITE ZF_RING_2 UniProtKB/Swiss-Prot
SMART RING UniProtKB/Swiss-Prot
  RINGv UniProtKB/Swiss-Prot
UniProt E5RH85_HUMAN UniProtKB/TrEMBL
  Q8WU17 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KMD5 UniProtKB/Swiss-Prot
  O75485 UniProtKB/Swiss-Prot
  Q7LDL3 UniProtKB/Swiss-Prot