EXOSC4 (exosome component 4) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: EXOSC4 (exosome component 4) Homo sapiens
Analyze
Symbol: EXOSC4
Name: exosome component 4
RGD ID: 1322197
HGNC Page HGNC
Description: Exhibits mRNA 3'-UTR AU-rich region binding activity. Involved in defense response to virus; nucleic acid metabolic process; and positive regulation of cell growth. Localizes to several cellular components, including exosome (RNase complex); nucleoplasm; and transcriptionally active chromatin; INTERACTS WITH atrazine; benzo[a]pyrene; cadmium atom.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: exosome complex component RRP41; exosome complex exonuclease RRP41; exosome component Rrp41; FLJ20591; hRrp41p; p12A; ribosomal RNA-processing protein 41; RRP41; RRP41A; Rrp41p; SKI6; Ski6p
RGD Orthologs
Mouse
Rat
Chinchilla
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 Ensembl8144,078,648 - 144,080,648 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,064,061 - 144,080,648 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,133,575 - 145,135,551 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,205,510 - 145,207,539 (+)NCBINCBI36hg18NCBI36
Build 348145,205,509 - 145,207,538NCBI
Celera8141,471,120 - 141,473,149 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,409,424 - 140,411,453 (+)NCBIHuRef
CHM1_18145,173,774 - 145,175,803 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10465791   PMID:11110791   PMID:11719186   PMID:11790298   PMID:11812149   PMID:11879549   PMID:12419256   PMID:12477932   PMID:12788944   PMID:14527413   PMID:14702039   PMID:14744259  
PMID:15231747   PMID:15489334   PMID:15635413   PMID:16341674   PMID:16912217   PMID:17174896   PMID:17545563   PMID:18172165   PMID:19490893   PMID:20368444   PMID:20531386   PMID:20531389  
PMID:20699273   PMID:21182203   PMID:21255825   PMID:21791617   PMID:21873635   PMID:22863883   PMID:22939629   PMID:23284306   PMID:24457600   PMID:24981860   PMID:25043052   PMID:25416956  
PMID:25659154   PMID:25693804   PMID:25921289   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26354767   PMID:26496610   PMID:27049334   PMID:27173435   PMID:27345150   PMID:27432908  
PMID:27634302   PMID:27926873   PMID:28077445   PMID:28514442   PMID:28515276   PMID:28877463   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29395067   PMID:29499938   PMID:29802200  
PMID:30021884   PMID:30033366   PMID:30155936   PMID:30196744   PMID:30209976   PMID:30804502   PMID:31048545   PMID:31059266   PMID:31091453   PMID:31343991   PMID:31527615   PMID:31586073  
PMID:31685992   PMID:32129710   PMID:32296183  


Genomics

Comparative Map Data
EXOSC4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,078,648 - 144,080,648 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,064,061 - 144,080,648 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,133,575 - 145,135,551 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,205,510 - 145,207,539 (+)NCBINCBI36hg18NCBI36
Build 348145,205,509 - 145,207,538NCBI
Celera8141,471,120 - 141,473,149 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,409,424 - 140,411,453 (+)NCBIHuRef
CHM1_18145,173,774 - 145,175,803 (+)NCBICHM1_1
Exosc4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,211,597 - 76,214,870 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,211,597 - 76,214,877 (+)Ensembl
GRCm381576,327,397 - 76,330,670 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,327,397 - 76,330,677 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,157,827 - 76,161,100 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,154,652 - 76,157,925 (+)NCBImm8
Celera1577,827,457 - 77,830,730 (+)NCBICelera
Cytogenetic Map15D3NCBI
Exosc4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,047,831 - 108,050,573 (+)NCBI
Rnor_6.0 Ensembl7117,390,285 - 117,393,719 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,390,302 - 117,393,044 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,377,932 - 117,380,674 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,374,913 - 114,377,655 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,409,175 - 114,411,600 (+)NCBI
Celera7104,400,183 - 104,402,925 (+)NCBICelera
Cytogenetic Map7q34NCBI
Exosc4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,732,308 - 2,734,398 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,732,308 - 2,734,398 (+)NCBIChiLan1.0ChiLan1.0
EXOSC4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,574,359 - 37,576,331 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,574,527 - 37,577,380 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,538,000 - 37,539,976 (+)NCBI
ROS_Cfam_1.01338,050,575 - 38,052,551 (+)NCBI
UMICH_Zoey_3.11337,722,667 - 37,724,645 (+)NCBI
UNSW_CanFamBas_1.01337,850,873 - 37,852,853 (+)NCBI
UU_Cfam_GSD_1.01338,327,465 - 38,329,442 (+)NCBI
Exosc4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303671,119 - 673,221 (-)NCBI
SpeTri2.0NW_0049364708,097,218 - 8,099,319 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EXOSC4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4618,988 - 621,343 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14618,993 - 621,336 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24828,840 - 831,327 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EXOSC4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,290,581 - 138,292,621 (+)NCBI
ChlSab1.1 Ensembl8138,290,705 - 138,292,570 (+)Ensembl
Exosc4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,744,266 - 12,746,253 (-)NCBI

Position Markers
RH41937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,135,227 - 145,135,456UniSTSGRCh37
Build 368145,207,215 - 145,207,444RGDNCBI36
Celera8141,472,825 - 141,473,054RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,411,129 - 140,411,358UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:963
Count of miRNA genes:539
Interacting mature miRNAs:602
Transcripts:ENST00000316052, ENST00000525936, ENST00000527954
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 4
Medium 2318 2422 1612 533 1773 378 3735 1372 3046 367 1415 1533 167 1069 2264 3
Low 120 568 114 91 175 87 620 821 687 52 40 78 8 1 135 524 3 2
Below cutoff 1 1 1 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000316052   ⟹   ENSP00000315476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,078,672 - 144,080,648 (+)Ensembl
RefSeq Acc Id: ENST00000525936   ⟹   ENSP00000432661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,078,648 - 144,080,516 (+)Ensembl
RefSeq Acc Id: ENST00000527954   ⟹   ENSP00000436539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,079,423 - 144,080,579 (+)Ensembl
RefSeq Acc Id: NM_019037   ⟹   NP_061910
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,078,672 - 144,080,648 (+)NCBI
GRCh378145,133,522 - 145,135,551 (+)RGD
Build 368145,205,510 - 145,207,539 (+)NCBI Archive
Celera8141,471,120 - 141,473,149 (+)RGD
HuRef8140,409,424 - 140,411,453 (+)ENTREZGENE
CHM1_18145,173,774 - 145,175,803 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517134   ⟹   XP_011515436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,064,061 - 144,080,648 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_061910   ⟸   NM_019037
- UniProtKB: Q9NPD3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515436   ⟸   XM_011517134
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000432661   ⟸   ENST00000525936
RefSeq Acc Id: ENSP00000315476   ⟸   ENST00000316052
RefSeq Acc Id: ENSP00000436539   ⟸   ENST00000527954
Protein Domains
RNase_PH   RNase_PH_C

Promoters
RGD ID:7214421
Promoter ID:EPDNEW_H12957
Type:initiation region
Name:EXOSC4_2
Description:exosome component 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12958  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,064,056 - 144,064,116EPDNEW
RGD ID:7214423
Promoter ID:EPDNEW_H12958
Type:initiation region
Name:EXOSC4_1
Description:exosome component 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12957  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,078,702 - 144,078,762EPDNEW
RGD ID:6806740
Promoter ID:HG_KWN:62311
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_019037
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,204,541 - 145,205,737 (+)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 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
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 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 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
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 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
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 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
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 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 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
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 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
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 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 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
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 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely 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 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3
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 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
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(chr8:10213-146293414)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 8q24.3(chr8:145101381-145138094)x3 copy number gain not provided [RCV000748006] Chr8:145101381..145138094 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145101381-145161823)x3 copy number gain not provided [RCV000748007] Chr8:145101381..145161823 [GRCh37]
Chr8:8q24.3
benign
NM_019037.3(EXOSC4):c.225A>G (p.Gln75=) single nucleotide variant not provided [RCV000954184] Chr8:144079996 [GRCh38]
Chr8:145134899 [GRCh37]
Chr8:8q24.3
benign
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
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(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
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 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18189 AgrOrtholog
COSMIC EXOSC4 COSMIC
Ensembl Genes ENSG00000178896 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000315476 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432661 UniProtKB/TrEMBL
  ENSP00000436539 UniProtKB/TrEMBL
Ensembl Transcript ENST00000316052 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000525936 UniProtKB/TrEMBL
  ENST00000527954 UniProtKB/TrEMBL
Gene3D-CATH 3.30.230.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000178896 GTEx
HGNC ID HGNC:18189 ENTREZGENE
Human Proteome Map EXOSC4 Human Proteome Map
InterPro ExoRNase_PH_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ExoRNase_PH_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ExoRNase_PH_dom2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNPase/RNase_PH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54512 UniProtKB/Swiss-Prot
NCBI Gene 54512 ENTREZGENE
OMIM 606491 OMIM
Pfam RNase_PH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_PH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134867931 PharmGKB
Superfamily-SCOP SSF54211 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55666 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PI41_HUMAN UniProtKB/TrEMBL
  E9PPI9_HUMAN UniProtKB/TrEMBL
  EXOS4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE