EXOSC8 (exosome component 8) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: EXOSC8 (exosome component 8) Homo sapiens
Analyze
Symbol: EXOSC8
Name: exosome component 8
RGD ID: 1314633
HGNC Page HGNC:17035
Description: Enables identical protein binding activity and mRNA 3'-UTR AU-rich region binding activity. Involved in RNA catabolic process and RNA processing. Located in chromosome; cytosol; and nuclear lumen. Part of exosome (RNase complex). Implicated in pontocerebellar hypoplasia type 1C.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA421P11.3; CBP-interacting protein 3; CIP3; EAP2; exosome complex component RRP43; exosome complex exonuclease RRP43; OIP-2; OIP2; Opa interacting protein 2; opa-interacting protein 2; p9; PCH1C; ribosomal RNA-processing protein 43; RP11-421P11.3; RRP43; Rrp43p
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: EXOSC8P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381337,000,786 - 37,009,614 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1336,998,816 - 37,025,881 (+)EnsemblGRCh38hg38GRCh38
GRCh371337,574,923 - 37,583,751 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361336,472,917 - 36,481,538 (+)NCBINCBI36Build 36hg18NCBI36
Build 341336,472,916 - 36,481,533NCBI
Celera1318,641,920 - 18,650,994 (+)NCBICelera
Cytogenetic Map13q13.3NCBI
HuRef1318,386,195 - 18,395,269 (+)NCBIHuRef
CHM1_11337,542,228 - 37,551,301 (+)NCBICHM1_1
T2T-CHM13v2.01336,219,982 - 36,228,811 (+)NCBIT2T-CHM13v2.0
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
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acrylamide  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
antimycin A  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-hexachlorocyclohexane  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
capsaicin  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
cyproconazole  (ISO)
deguelin  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
epoxiconazole  (ISO)
fenpyroximate  (EXP)
folic acid  (ISO)
Heptachlor epoxide  (ISO)
inulin  (ISO)
L-methionine  (ISO)
lucanthone  (EXP)
menadione  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
monosodium L-glutamate  (ISO)
nickel sulfate  (EXP)
Nutlin-3  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
phenobarbital  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
propiconazole  (ISO)
pyrimidifen  (EXP)
quercetin  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
selenium atom  (EXP)
sunitinib  (EXP)
tebufenpyrad  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thifluzamide  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7604013   PMID:8889548   PMID:9466265   PMID:11158571   PMID:11719186   PMID:11812149   PMID:11929972   PMID:12419256   PMID:12477932   PMID:12788944   PMID:14702039   PMID:15231747  
PMID:15489334   PMID:15635413   PMID:16196087   PMID:16912217   PMID:17174896   PMID:17545563   PMID:20531386   PMID:20531389   PMID:21255825   PMID:21516116   PMID:21873635   PMID:22658674  
PMID:22939629   PMID:22990118   PMID:23314748   PMID:23349634   PMID:23443559   PMID:23844004   PMID:24332808   PMID:24722188   PMID:24981860   PMID:24989451   PMID:25043052   PMID:25281560  
PMID:25416956   PMID:25693804   PMID:25910212   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26831064   PMID:26871637   PMID:27193168   PMID:27345150   PMID:27432908   PMID:27634302  
PMID:28186131   PMID:28514442   PMID:28877463   PMID:29229926   PMID:29298432   PMID:29395067   PMID:29499938   PMID:29509190   PMID:29656893   PMID:29704455   PMID:29955894   PMID:30021884  
PMID:30884312   PMID:31059266   PMID:31091453   PMID:31515488   PMID:31527615   PMID:31548613   PMID:31586073   PMID:31839598   PMID:31980649   PMID:32296183   PMID:32353859   PMID:32687490  
PMID:32707033   PMID:32807901   PMID:33060197   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34349018   PMID:34373451   PMID:34728620   PMID:35271311   PMID:35446349  
PMID:35748872   PMID:35831314   PMID:35850772   PMID:35915203   PMID:35941108   PMID:35944360   PMID:36089195   PMID:36215168   PMID:36232890   PMID:36241425   PMID:36348012   PMID:36526897  
PMID:36912080   PMID:37223481   PMID:37827155   PMID:38017281   PMID:38113892   PMID:38697112  


Genomics

Comparative Map Data
EXOSC8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381337,000,786 - 37,009,614 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1336,998,816 - 37,025,881 (+)EnsemblGRCh38hg38GRCh38
GRCh371337,574,923 - 37,583,751 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361336,472,917 - 36,481,538 (+)NCBINCBI36Build 36hg18NCBI36
Build 341336,472,916 - 36,481,533NCBI
Celera1318,641,920 - 18,650,994 (+)NCBICelera
Cytogenetic Map13q13.3NCBI
HuRef1318,386,195 - 18,395,269 (+)NCBIHuRef
CHM1_11337,542,228 - 37,551,301 (+)NCBICHM1_1
T2T-CHM13v2.01336,219,982 - 36,228,811 (+)NCBIT2T-CHM13v2.0
Exosc8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39354,636,099 - 54,642,469 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl354,636,099 - 54,642,814 (-)EnsemblGRCm39 Ensembl
GRCm38354,728,679 - 54,735,364 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl354,728,678 - 54,735,393 (-)EnsemblGRCm38mm10GRCm38
MGSCv37354,532,601 - 54,539,286 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36354,816,609 - 54,823,322 (-)NCBIMGSCv36mm8
Celera354,450,363 - 54,457,048 (-)NCBICelera
Cytogenetic Map3CNCBI
cM Map325.6NCBI
Exosc8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82141,080,568 - 141,087,112 (-)NCBIGRCr8
mRatBN7.22138,930,405 - 138,937,009 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2138,930,405 - 138,936,928 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2145,504,656 - 145,511,199 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02143,616,682 - 143,623,225 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02138,248,517 - 138,255,060 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02143,925,643 - 143,932,240 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2143,925,546 - 143,931,940 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02160,331,306 - 160,337,857 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42143,954,943 - 143,961,239 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12143,905,006 - 143,911,553 (-)NCBI
Celera2133,415,207 - 133,421,503 (-)NCBICelera
Cytogenetic Map2q26NCBI
Exosc8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554319,049,896 - 9,058,264 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554319,048,210 - 9,058,079 (-)NCBIChiLan1.0ChiLan1.0
EXOSC8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21436,520,654 - 36,529,766 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11327,626,152 - 27,635,938 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01318,208,074 - 18,217,426 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11336,638,238 - 36,647,273 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1336,638,406 - 36,647,273 (+)Ensemblpanpan1.1panPan2
EXOSC8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1253,698,399 - 3,708,342 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl253,698,483 - 3,769,683 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha253,728,510 - 3,738,439 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0253,796,701 - 3,806,631 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl253,796,785 - 3,868,011 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1253,699,634 - 3,709,602 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0253,690,760 - 3,700,868 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0253,762,772 - 3,772,753 (-)NCBIUU_Cfam_GSD_1.0
Exosc8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945164,836,513 - 164,839,471 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493647231,112,733 - 31,115,639 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EXOSC8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1112,817,110 - 12,825,843 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11112,817,081 - 12,825,847 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21112,775,507 - 12,784,038 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EXOSC8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1315,520,122 - 15,529,101 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl315,519,804 - 15,529,014 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605728,755,523 - 28,764,658 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Exosc8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624776223,236 - 230,620 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624776223,236 - 230,572 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EXOSC8
84 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33		 pathogenic
GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1 copy number loss See cases [RCV000051375] Chr13:35232476..41375955 [GRCh38]
Chr13:35806613..41950091 [GRCh37]
Chr13:34704613..40848091 [NCBI36]
Chr13:13q13.3-14.11		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31		 pathogenic
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) single nucleotide variant Pontocerebellar hypoplasia, type 1C [RCV000144941]|not provided [RCV000418794] Chr13:37009283 [GRCh38]
Chr13:37583420 [GRCh37]
Chr13:13q13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val) single nucleotide variant Pontocerebellar hypoplasia, type 1C [RCV000144942] Chr13:37000810 [GRCh38]
Chr13:37574947 [GRCh37]
Chr13:13q13.3		 pathogenic|not provided
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11		 pathogenic
NM_181503.3(EXOSC8):c.808A>T (p.Ile270Phe) single nucleotide variant not specified [RCV000202816] Chr13:37009276 [GRCh38]
Chr13:37583413 [GRCh37]
Chr13:13q13.3		 uncertain significance
GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 copy number loss See cases [RCV000138723] Chr13:31018160..48491204 [GRCh38]
Chr13:31592297..49065340 [GRCh37]
Chr13:30490297..47963341 [NCBI36]
Chr13:13q12.3-14.2		 pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1		 pathogenic
GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1 copy number loss See cases [RCV000139225] Chr13:30313809..39267681 [GRCh38]
Chr13:30887946..39841818 [GRCh37]
Chr13:29785946..38739818 [NCBI36]
Chr13:13q12.3-13.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_181503.3(EXOSC8):c.55-10_55-9del microsatellite Pontocerebellar hypoplasia, type 1C [RCV002500746]|not provided [RCV000224260] Chr13:37002476..37002477 [GRCh38]
Chr13:37576613..37576614 [GRCh37]
Chr13:13q13.3		 benign|likely benign
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1 copy number loss See cases [RCV000449219] Chr13:36064105..39230796 [GRCh37]
Chr13:13q13.3		 likely pathogenic
GRCh37/hg19 13q13.3(chr13:35531798-39607778)x1 copy number loss See cases [RCV000449245] Chr13:35531798..39607778 [GRCh37]
Chr13:13q13.3		 likely pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_181503.3(EXOSC8):c.474G>A (p.Ala158=) single nucleotide variant EXOSC8-related disorder [RCV003953016]|not provided [RCV002531159]|not specified [RCV000609168] Chr13:37007058 [GRCh38]
Chr13:37581195 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter) single nucleotide variant Pontocerebellar hypoplasia, type 1C [RCV000662025] Chr13:37009249 [GRCh38]
Chr13:37583386 [GRCh37]
Chr13:13q13.3		 uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro) single nucleotide variant Pontocerebellar hypoplasia, type 1C [RCV001004885] Chr13:37008815 [GRCh38]
Chr13:37582952 [GRCh37]
Chr13:13q13.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q13.3(chr13:37498944-37617645)x3 copy number gain not provided [RCV000738172] Chr13:37498944..37617645 [GRCh37]
Chr13:13q13.3		 benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
NC_000013.11:g.37000362_37000363del deletion not provided [RCV001679316] Chr13:37000345..37000346 [GRCh38]
Chr13:37574482..37574483 [GRCh37]
Chr13:13q13.3		 benign
NM_181503.3(EXOSC8):c.17+1G>T single nucleotide variant Pontocerebellar hypoplasia, type 1C [RCV001004884] Chr13:37000823 [GRCh38]
Chr13:37574960 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.118+7A>T single nucleotide variant not provided [RCV000967311] Chr13:37002558 [GRCh38]
Chr13:37576695 [GRCh37]
Chr13:13q13.3		 benign
NM_181503.3(EXOSC8):c.17+8T>C single nucleotide variant not provided [RCV000884014] Chr13:37000830 [GRCh38]
Chr13:37574967 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.391-9C>G single nucleotide variant not provided [RCV000904847] Chr13:37006966 [GRCh38]
Chr13:37581103 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.459A>G (p.Thr153=) single nucleotide variant EXOSC8-related disorder [RCV003923292]|not provided [RCV000922613] Chr13:37007043 [GRCh38]
Chr13:37581180 [GRCh37]
Chr13:13q13.3		 benign|likely benign
NM_181503.3(EXOSC8):c.272C>T (p.Ser91Leu) single nucleotide variant not provided [RCV000879697] Chr13:37005953 [GRCh38]
Chr13:37580090 [GRCh37]
Chr13:13q13.3		 benign
NM_181503.3(EXOSC8):c.432C>T (p.Tyr144=) single nucleotide variant not provided [RCV000906919] Chr13:37007016 [GRCh38]
Chr13:37581153 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.627C>T (p.Asp209=) single nucleotide variant not provided [RCV000930557] Chr13:37008747 [GRCh38]
Chr13:37582884 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.426C>T (p.Leu142=) single nucleotide variant not provided [RCV000964520] Chr13:37007010 [GRCh38]
Chr13:37581147 [GRCh37]
Chr13:13q13.3		 benign|likely benign
NM_181503.3(EXOSC8):c.391-7A>G single nucleotide variant not provided [RCV000959930] Chr13:37006968 [GRCh38]
Chr13:37581105 [GRCh37]
Chr13:13q13.3		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) single nucleotide variant Pontocerebellar hypoplasia, type 1C [RCV000989100]|not provided [RCV001619873]|not specified [RCV001796340] Chr13:37006002 [GRCh38]
Chr13:37580139 [GRCh37]
Chr13:13q13.3		 benign
NM_181503.3(EXOSC8):c.390+5G>A single nucleotide variant not provided [RCV000995064] Chr13:37006165 [GRCh38]
Chr13:37580302 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.391-61T>G single nucleotide variant not provided [RCV001641153] Chr13:37006914 [GRCh38]
Chr13:37581051 [GRCh37]
Chr13:13q13.3		 benign
NC_000013.11:g.37000571G>A single nucleotide variant not provided [RCV001673802] Chr13:37000571 [GRCh38]
Chr13:37574708 [GRCh37]
Chr13:13q13.3		 benign
NC_000013.11:g.37000363del deletion not provided [RCV001721700] Chr13:37000345 [GRCh38]
Chr13:37574482 [GRCh37]
Chr13:13q13.3		 benign
NC_000013.11:g.37000341T>C single nucleotide variant not provided [RCV001639857] Chr13:37000341 [GRCh38]
Chr13:37574478 [GRCh37]
Chr13:13q13.3		 benign
NM_181503.3(EXOSC8):c.9T>G (p.Ala3=) single nucleotide variant not provided [RCV000933314] Chr13:37000814 [GRCh38]
Chr13:37574951 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.471A>G (p.Leu157=) single nucleotide variant not provided [RCV000913081] Chr13:37007055 [GRCh38]
Chr13:37581192 [GRCh37]
Chr13:13q13.3		 likely benign
NC_000013.11:g.37000544C>T single nucleotide variant not provided [RCV001644000] Chr13:37000544 [GRCh38]
Chr13:37574681 [GRCh37]
Chr13:13q13.3		 benign
NM_181503.3(EXOSC8):c.193-83A>C single nucleotide variant not provided [RCV001596681] Chr13:37004433 [GRCh38]
Chr13:37578570 [GRCh37]
Chr13:13q13.3		 benign
NC_000013.11:g.37000577C>T single nucleotide variant not provided [RCV001715347] Chr13:37000577 [GRCh38]
Chr13:37574714 [GRCh37]
Chr13:13q13.3		 benign
NM_181503.3(EXOSC8):c.239-35dup duplication not provided [RCV001683966] Chr13:37005862..37005863 [GRCh38]
Chr13:37579999..37580000 [GRCh37]
Chr13:13q13.3		 benign
NM_181503.3(EXOSC8):c.608+93_608+95del deletion not provided [RCV001614882] Chr13:37008270..37008272 [GRCh38]
Chr13:37582407..37582409 [GRCh37]
Chr13:13q13.3		 benign
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del) deletion Pontocerebellar hypoplasia, type 1C [RCV002254332]|not provided [RCV001090327] Chr13:37002520..37002522 [GRCh38]
Chr13:37576657..37576659 [GRCh37]
Chr13:13q13.3		 likely pathogenic|uncertain significance
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs) duplication Pontocerebellar hypoplasia, type 1C [RCV002254333]|not provided [RCV001090328] Chr13:37009200..37009201 [GRCh38]
Chr13:37583337..37583338 [GRCh37]
Chr13:13q13.3		 likely pathogenic|uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_181503.3(EXOSC8):c.31_32dup (p.Glu12fs) microsatellite Pontocerebellar hypoplasia, type 1c [RCV001328800] Chr13:37002283..37002284 [GRCh38]
Chr13:37576420..37576421 [GRCh37]
Chr13:13q13.3		 pathogenic
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu) single nucleotide variant Pontocerebellar hypoplasia, type 1C [RCV001328799]|not provided [RCV002546277]|not specified [RCV001526493] Chr13:37000818 [GRCh38]
Chr13:37574955 [GRCh37]
Chr13:13q13.3		 likely benign|uncertain significance
NM_181503.3(EXOSC8):c.11G>C (p.Gly4Ala) single nucleotide variant not provided [RCV001531181] Chr13:37000816 [GRCh38]
Chr13:37574953 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.269C>G (p.Ser90Ter) single nucleotide variant Spastic ataxia [RCV001647191] Chr13:37005950 [GRCh38]
Chr13:37580087 [GRCh37]
Chr13:13q13.3		 pathogenic
NM_181503.3(EXOSC8):c.609-3T>C single nucleotide variant not provided [RCV001774352] Chr13:37008726 [GRCh38]
Chr13:37582863 [GRCh37]
Chr13:13q13.3		 uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_181503.3(EXOSC8):c.2T>G (p.Met1Arg) single nucleotide variant not provided [RCV001774351] Chr13:37000807 [GRCh38]
Chr13:37574944 [GRCh37]
Chr13:13q13.3		 uncertain significance
GRCh37/hg19 13q13.3(chr13:35531798-39607778) copy number loss not specified [RCV002053049] Chr13:35531798..39607778 [GRCh37]
Chr13:13q13.3		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q13.3(chr13:37464566-38493263)x3 copy number gain not provided [RCV001836524] Chr13:37464566..38493263 [GRCh37]
Chr13:13q13.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1 copy number loss not specified [RCV002053051] Chr13:36064105..39230796 [GRCh37]
Chr13:13q13.3		 pathogenic|likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q13.3-14.11(chr13:36148057-41670428)x3 copy number gain not provided [RCV002474615] Chr13:36148057..41670428 [GRCh37]
Chr13:13q13.3-14.11		 uncertain significance
GRCh37/hg19 13q13.3-14.11(chr13:35501428-40901176)x1 copy number loss not provided [RCV002474979] Chr13:35501428..40901176 [GRCh37]
Chr13:13q13.3-14.11		 pathogenic
NM_181503.3(EXOSC8):c.488T>C (p.Val163Ala) single nucleotide variant not specified [RCV004121954] Chr13:37008057 [GRCh38]
Chr13:37582194 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.508A>G (p.Ile170Val) single nucleotide variant not provided [RCV002994295]|not specified [RCV004065278] Chr13:37008077 [GRCh38]
Chr13:37582214 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.609-16T>A single nucleotide variant not provided [RCV002776487] Chr13:37008713 [GRCh38]
Chr13:37582850 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.244A>G (p.Asn82Asp) single nucleotide variant not provided [RCV002839237] Chr13:37005925 [GRCh38]
Chr13:37580062 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.166A>G (p.Thr56Ala) single nucleotide variant not specified [RCV004095743] Chr13:37002981 [GRCh38]
Chr13:37577118 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.802G>A (p.Glu268Lys) single nucleotide variant not provided [RCV002618076] Chr13:37009270 [GRCh38]
Chr13:37583407 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.609-6T>G single nucleotide variant not provided [RCV002735170] Chr13:37008723 [GRCh38]
Chr13:37582860 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.133G>A (p.Ala45Thr) single nucleotide variant not provided [RCV002636913] Chr13:37002948 [GRCh38]
Chr13:37577085 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.7G>T (p.Ala3Ser) single nucleotide variant not specified [RCV004172064] Chr13:37000812 [GRCh38]
Chr13:37574949 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.535G>T (p.Val179Phe) single nucleotide variant not provided [RCV002866215] Chr13:37008104 [GRCh38]
Chr13:37582241 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.251A>G (p.Asp84Gly) single nucleotide variant not provided [RCV002851738] Chr13:37005932 [GRCh38]
Chr13:37580069 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.453C>G (p.Ala151=) single nucleotide variant not provided [RCV002829889] Chr13:37007037 [GRCh38]
Chr13:37581174 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.427G>A (p.Asp143Asn) single nucleotide variant not provided [RCV003005066]|not specified [RCV004068478] Chr13:37007011 [GRCh38]
Chr13:37581148 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.54+20A>G single nucleotide variant not provided [RCV002572543] Chr13:37002329 [GRCh38]
Chr13:37576466 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.281G>A (p.Arg94Gln) single nucleotide variant not provided [RCV002852547] Chr13:37005962 [GRCh38]
Chr13:37580099 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.484A>G (p.Asn162Asp) single nucleotide variant not provided [RCV003025796] Chr13:37007068 [GRCh38]
Chr13:37581205 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.193-15T>C single nucleotide variant not provided [RCV002626227] Chr13:37004501 [GRCh38]
Chr13:37578638 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.118+11A>G single nucleotide variant not provided [RCV002800677] Chr13:37002562 [GRCh38]
Chr13:37576699 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.192+5G>C single nucleotide variant not provided [RCV002649286] Chr13:37003012 [GRCh38]
Chr13:37577149 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.309A>G (p.Gln103=) single nucleotide variant not provided [RCV003065996] Chr13:37005990 [GRCh38]
Chr13:37580127 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.234C>T (p.Tyr78=) single nucleotide variant not provided [RCV002630510] Chr13:37004557 [GRCh38]
Chr13:37578694 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs) deletion Pontocerebellar hypoplasia, type 1C [RCV003143507]|not provided [RCV002632413] Chr13:37008105..37008109 [GRCh38]
Chr13:37582242..37582246 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.239-19T>C single nucleotide variant not provided [RCV002806097] Chr13:37005901 [GRCh38]
Chr13:37580038 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.211A>G (p.Thr71Ala) single nucleotide variant not provided [RCV002577546]|not specified [RCV004064476] Chr13:37004534 [GRCh38]
Chr13:37578671 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.345-12C>T single nucleotide variant not provided [RCV002576526] Chr13:37006103 [GRCh38]
Chr13:37580240 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.473C>T (p.Ala158Val) single nucleotide variant not provided [RCV002576703] Chr13:37007057 [GRCh38]
Chr13:37581194 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.815G>T (p.Ser272Ile) single nucleotide variant not specified [RCV004177715] Chr13:37009283 [GRCh38]
Chr13:37583420 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.260C>A (p.Pro87His) single nucleotide variant not provided [RCV002834895] Chr13:37005941 [GRCh38]
Chr13:37580078 [GRCh37]
Chr13:13q13.3		 benign
NM_181503.3(EXOSC8):c.263T>C (p.Leu88Pro) single nucleotide variant not provided [RCV002649822] Chr13:37005944 [GRCh38]
Chr13:37580081 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.460T>C (p.Phe154Leu) single nucleotide variant not specified [RCV004186608] Chr13:37007044 [GRCh38]
Chr13:37581181 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.316A>C (p.Ser106Arg) single nucleotide variant not provided [RCV002857697] Chr13:37005997 [GRCh38]
Chr13:37580134 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.224A>T (p.Asp75Val) single nucleotide variant not provided [RCV002746701] Chr13:37004547 [GRCh38]
Chr13:37578684 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.487+20del deletion not provided [RCV003010241] Chr13:37007086 [GRCh38]
Chr13:37581223 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.45_47del (p.Arg16del) deletion not provided [RCV003086913] Chr13:37002298..37002300 [GRCh38]
Chr13:37576435..37576437 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.605A>T (p.Asp202Val) single nucleotide variant not provided [RCV003011362] Chr13:37008174 [GRCh38]
Chr13:37582311 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.609-19T>A single nucleotide variant not provided [RCV003029342] Chr13:37008710 [GRCh38]
Chr13:37582847 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.569G>A (p.Arg190Lys) single nucleotide variant not provided [RCV002922252] Chr13:37008138 [GRCh38]
Chr13:37582275 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.169A>G (p.Thr57Ala) single nucleotide variant not provided [RCV002634919] Chr13:37002984 [GRCh38]
Chr13:37577121 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.766G>T (p.Val256Phe) single nucleotide variant not specified [RCV004081633] Chr13:37009234 [GRCh38]
Chr13:37583371 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.327T>A (p.Ile109=) single nucleotide variant not provided [RCV002608530] Chr13:37006008 [GRCh38]
Chr13:37580145 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.17+7G>A single nucleotide variant not provided [RCV002613325] Chr13:37000829 [GRCh38]
Chr13:37574966 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.54+15_54+16insATAA insertion not provided [RCV002612705] Chr13:37002324..37002325 [GRCh38]
Chr13:37576461..37576462 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser) single nucleotide variant Pontocerebellar hypoplasia, type 1C [RCV003147138] Chr13:37005922 [GRCh38]
Chr13:37580059 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.824C>T (p.Pro275Leu) single nucleotide variant not specified [RCV004287256] Chr13:37009292 [GRCh38]
Chr13:37583429 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.761G>A (p.Arg254Gln) single nucleotide variant not specified [RCV004347495] Chr13:37009229 [GRCh38]
Chr13:37583366 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.822A>T (p.Lys274Asn) single nucleotide variant not provided [RCV003569858] Chr13:37009290 [GRCh38]
Chr13:37583427 [GRCh37]
Chr13:13q13.3		 uncertain significance
GRCh37/hg19 13q13.3(chr13:37267058-37979438)x3 copy number gain not provided [RCV003484896] Chr13:37267058..37979438 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.541_543del (p.Leu181del) deletion not provided [RCV003687885] Chr13:37008110..37008112 [GRCh38]
Chr13:37582247..37582249 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.609-19del deletion not provided [RCV003661226] Chr13:37008710 [GRCh38]
Chr13:37582847 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.488-19C>G single nucleotide variant not provided [RCV003881240] Chr13:37008038 [GRCh38]
Chr13:37582175 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.192+8dup duplication not provided [RCV003559313] Chr13:37003014..37003015 [GRCh38]
Chr13:37577151..37577152 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.216T>A (p.Asp72Glu) single nucleotide variant not provided [RCV003672775] Chr13:37004539 [GRCh38]
Chr13:37578676 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.608+10T>C single nucleotide variant not provided [RCV003816484] Chr13:37008187 [GRCh38]
Chr13:37582324 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.28C>T (p.Pro10Ser) single nucleotide variant not provided [RCV003677160] Chr13:37002283 [GRCh38]
Chr13:37576420 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.207A>G (p.Pro69=) single nucleotide variant not provided [RCV003853866] Chr13:37004530 [GRCh38]
Chr13:37578667 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.736G>A (p.Ala246Thr) single nucleotide variant not provided [RCV003556384] Chr13:37009204 [GRCh38]
Chr13:37583341 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.266G>A (p.Cys89Tyr) single nucleotide variant not provided [RCV003737917] Chr13:37005947 [GRCh38]
Chr13:37580084 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.236T>C (p.Val79Ala) single nucleotide variant not provided [RCV003848219] Chr13:37004559 [GRCh38]
Chr13:37578696 [GRCh37]
Chr13:13q13.3		 uncertain significance
GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1 copy number loss not specified [RCV003987035] Chr13:35060982..44540846 [GRCh37]
Chr13:13q13.2-14.11		 uncertain significance
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 copy number gain not specified [RCV003987040] Chr13:35015723..59553519 [GRCh37]
Chr13:13q13.2-21.1		 pathogenic
NM_181503.3(EXOSC8):c.795G>C (p.Leu265=) single nucleotide variant EXOSC8-related disorder [RCV003948987]|not provided [RCV003733969] Chr13:37009263 [GRCh38]
Chr13:37583400 [GRCh37]
Chr13:13q13.3		 likely benign
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 copy number loss not provided [RCV003885457] Chr13:34884647..61309742 [GRCh37]
Chr13:13q13.2-21.2		 pathogenic
NM_181503.3(EXOSC8):c.21C>T (p.Thr7=) single nucleotide variant EXOSC8-related disorder [RCV004759081] Chr13:37002276 [GRCh38]
Chr13:37576413 [GRCh37]
Chr13:13q13.3		 likely benign
NM_181503.3(EXOSC8):c.104C>T (p.Thr35Ile) single nucleotide variant not specified [RCV004385609] Chr13:37002537 [GRCh38]
Chr13:37576674 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.17+5del deletion Pontocerebellar hypoplasia, type 1C [RCV004577201] Chr13:37000827 [GRCh38]
Chr13:37574964 [GRCh37]
Chr13:13q13.3		 uncertain significance
NC_000013.10:g.(?_37393495)_(37583436_?)del deletion MHC class II deficiency [RCV004578317] Chr13:37393495..37583436 [GRCh37]
Chr13:13q13.3		 pathogenic
NC_000013.10:g.(?_36878502)_(40325230_?)dup duplication not provided [RCV004578351] Chr13:36878502..40325230 [GRCh37]
Chr13:13q13.3-14.11		 uncertain significance
NM_181503.3(EXOSC8):c.15C>G (p.Phe5Leu) single nucleotide variant not specified [RCV004622978] Chr13:37000820 [GRCh38]
Chr13:37574957 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.628C>A (p.Pro210Thr) single nucleotide variant Pontocerebellar hypoplasia, type 1C [RCV004566633] Chr13:37008748 [GRCh38]
Chr13:37582885 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.192+1G>A single nucleotide variant EXOSC8-related disorder [RCV004759172] Chr13:37003008 [GRCh38]
Chr13:37577145 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.96C>G (p.Phe32Leu) single nucleotide variant not specified [RCV004918329] Chr13:37002529 [GRCh38]
Chr13:37576666 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_181503.3(EXOSC8):c.708C>G (p.His236Gln) single nucleotide variant not specified [RCV004918330] Chr13:37008828 [GRCh38]
Chr13:37582965 [GRCh37]
Chr13:13q13.3		 uncertain significance
GRCh37/hg19 13q12.3-14.3(chr13:32076445-54495559)x1 copy number loss not provided [RCV004819377] Chr13:32076445..54495559 [GRCh37]
Chr13:13q12.3-14.3		 pathogenic
GRCh37/hg19 13q11-31.3(chr13:19436287-92292639)x3 copy number gain not provided [RCV004819310] Chr13:19436287..92292639 [GRCh37]
Chr13:13q11-31.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1032
Count of miRNA genes:593
Interacting mature miRNAs:642
Transcripts:ENST00000239893, ENST00000389704, ENST00000464235, ENST00000470423, ENST00000474661, ENST00000481013, ENST00000488108, ENST00000488779, ENST00000489088, ENST00000490537, ENST00000495092
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597412974GWAS1509048_Hsoluble triggering receptor expressed on myeloid cells 2 measurement QTL GWAS1509048 (human)0.000005soluble triggering receptor expressed on myeloid cells 2 measurement133700320537003206Human

Markers in Region
RH11262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371337,583,478 - 37,583,627UniSTSGRCh37
Build 361336,481,478 - 36,481,627RGDNCBI36
Celera1318,650,721 - 18,650,870RGD
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map13q13.3UniSTS
HuRef1318,394,996 - 18,395,145UniSTS
GeneMap99-GB4 RH Map13126.18UniSTS
NCBI RH Map13315.3UniSTS
G19693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371337,583,559 - 37,583,699UniSTSGRCh37
Build 361336,481,559 - 36,481,699RGDNCBI36
Celera1318,650,802 - 18,650,942RGD
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map13q13.3UniSTS
HuRef1318,395,077 - 18,395,217UniSTS
A001V34  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371337,583,559 - 37,583,699UniSTSGRCh37
Build 361336,481,559 - 36,481,699RGDNCBI36
Celera1318,650,802 - 18,650,942RGD
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map13q13.3UniSTS
HuRef1318,395,077 - 18,395,217UniSTS
GeneMap99-GB4 RH Map13122.15UniSTS
RH44456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371337,583,321 - 37,583,447UniSTSGRCh37
Build 361336,481,321 - 36,481,447RGDNCBI36
Celera1318,650,564 - 18,650,690RGD
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map13q13.3UniSTS
HuRef1318,394,839 - 18,394,965UniSTS
GeneMap99-GB4 RH Map13120.52UniSTS
NCBI RH Map13315.7UniSTS
EXOSC8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371337,583,359 - 37,583,459UniSTSGRCh37
Celera1318,650,602 - 18,650,702UniSTS
HuRef1318,394,877 - 18,394,977UniSTS
D11S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map7p15-p14UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q12-q13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map14q31UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000239893   ⟹   ENSP00000239893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,783 - 37,008,833 (+)Ensembl
Ensembl Acc Id: ENST00000389704   ⟹   ENSP00000374354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,786 - 37,009,614 (+)Ensembl
Ensembl Acc Id: ENST00000464235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,782 - 37,009,371 (+)Ensembl
Ensembl Acc Id: ENST00000470423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,766 - 37,005,760 (+)Ensembl
Ensembl Acc Id: ENST00000474661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,786 - 37,008,785 (+)Ensembl
Ensembl Acc Id: ENST00000481013   ⟹   ENSP00000419203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,006,978 - 37,009,613 (+)Ensembl
Ensembl Acc Id: ENST00000488108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,780 - 37,005,844 (+)Ensembl
Ensembl Acc Id: ENST00000488779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,788 - 37,009,384 (+)Ensembl
Ensembl Acc Id: ENST00000489088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,998,816 - 37,006,153 (+)Ensembl
Ensembl Acc Id: ENST00000490537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,787 - 37,009,401 (+)Ensembl
Ensembl Acc Id: ENST00000495092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,004,218 - 37,008,832 (+)Ensembl
Ensembl Acc Id: ENST00000684866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,778 - 37,009,569 (+)Ensembl
Ensembl Acc Id: ENST00000685563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,788 - 37,009,569 (+)Ensembl
Ensembl Acc Id: ENST00000685624   ⟹   ENSP00000510384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,786 - 37,011,095 (+)Ensembl
Ensembl Acc Id: ENST00000685643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,788 - 37,009,559 (+)Ensembl
Ensembl Acc Id: ENST00000686472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,786 - 37,005,698 (+)Ensembl
Ensembl Acc Id: ENST00000686701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,778 - 37,009,340 (+)Ensembl
Ensembl Acc Id: ENST00000686729   ⟹   ENSP00000509000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,786 - 37,009,545 (+)Ensembl
Ensembl Acc Id: ENST00000687482   ⟹   ENSP00000510481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,788 - 37,009,559 (+)Ensembl
Ensembl Acc Id: ENST00000687944   ⟹   ENSP00000509727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,807 - 37,009,340 (+)Ensembl
Ensembl Acc Id: ENST00000688064   ⟹   ENSP00000510279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,789 - 37,009,376 (+)Ensembl
Ensembl Acc Id: ENST00000688436   ⟹   ENSP00000508444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,788 - 37,011,095 (+)Ensembl
Ensembl Acc Id: ENST00000688771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,006,322 - 37,009,350 (+)Ensembl
Ensembl Acc Id: ENST00000689744   ⟹   ENSP00000510687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,781 - 37,009,609 (+)Ensembl
Ensembl Acc Id: ENST00000689948   ⟹   ENSP00000509508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,788 - 37,009,360 (+)Ensembl
Ensembl Acc Id: ENST00000690673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,788 - 37,009,543 (+)Ensembl
Ensembl Acc Id: ENST00000690774   ⟹   ENSP00000508609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,788 - 37,025,881 (+)Ensembl
Ensembl Acc Id: ENST00000691611   ⟹   ENSP00000508696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,001,281 - 37,009,559 (+)Ensembl
Ensembl Acc Id: ENST00000692143   ⟹   ENSP00000510649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,782 - 37,011,095 (+)Ensembl
Ensembl Acc Id: ENST00000692477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,786 - 37,009,360 (+)Ensembl
Ensembl Acc Id: ENST00000692588   ⟹   ENSP00000509760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,885 - 37,009,439 (+)Ensembl
Ensembl Acc Id: ENST00000692636   ⟹   ENSP00000509306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,001,299 - 37,009,559 (+)Ensembl
Ensembl Acc Id: ENST00000692761   ⟹   ENSP00000510440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,791 - 37,023,409 (+)Ensembl
Ensembl Acc Id: ENST00000692787   ⟹   ENSP00000509588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,788 - 37,009,569 (+)Ensembl
Ensembl Acc Id: ENST00000693100   ⟹   ENSP00000509449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,786 - 37,011,095 (+)Ensembl
Ensembl Acc Id: ENST00000693562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,005,865 - 37,009,352 (+)Ensembl
Ensembl Acc Id: ENST00000693733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1337,000,788 - 37,009,569 (+)Ensembl
RefSeq Acc Id: NM_181503   ⟹   NP_852480
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381337,000,786 - 37,009,614 (+)NCBI
GRCh371337,574,678 - 37,583,751 (+)RGD
Build 361336,472,917 - 36,481,538 (+)NCBI Archive
Celera1318,641,920 - 18,650,994 (+)RGD
HuRef1318,386,195 - 18,395,269 (+)ENTREZGENE
CHM1_11337,542,228 - 37,551,301 (+)NCBI
T2T-CHM13v2.01336,219,982 - 36,228,811 (+)NCBI
Sequence:
RefSeq Acc Id: NP_852480   ⟸   NM_181503
- UniProtKB: O43480 (UniProtKB/Swiss-Prot),   Q5TBA5 (UniProtKB/Swiss-Prot),   Q96B26 (UniProtKB/Swiss-Prot),   Q5JXM0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000374354   ⟸   ENST00000389704
Ensembl Acc Id: ENSP00000419203   ⟸   ENST00000481013
Ensembl Acc Id: ENSP00000239893   ⟸   ENST00000239893
Ensembl Acc Id: ENSP00000509000   ⟸   ENST00000686729
Ensembl Acc Id: ENSP00000509588   ⟸   ENST00000692787
Ensembl Acc Id: ENSP00000510687   ⟸   ENST00000689744
Ensembl Acc Id: ENSP00000508609   ⟸   ENST00000690774
Ensembl Acc Id: ENSP00000508444   ⟸   ENST00000688436
Ensembl Acc Id: ENSP00000509306   ⟸   ENST00000692636
Ensembl Acc Id: ENSP00000510384   ⟸   ENST00000685624
Ensembl Acc Id: ENSP00000510440   ⟸   ENST00000692761
Ensembl Acc Id: ENSP00000510279   ⟸   ENST00000688064
Ensembl Acc Id: ENSP00000509449   ⟸   ENST00000693100
Ensembl Acc Id: ENSP00000510481   ⟸   ENST00000687482
Ensembl Acc Id: ENSP00000509508   ⟸   ENST00000689948
Ensembl Acc Id: ENSP00000510649   ⟸   ENST00000692143
Ensembl Acc Id: ENSP00000509760   ⟸   ENST00000692588
Ensembl Acc Id: ENSP00000509727   ⟸   ENST00000687944
Ensembl Acc Id: ENSP00000508696   ⟸   ENST00000691611
Protein Domains
Exoribonuclease phosphorolytic

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96B26-F1-model_v2 AlphaFold Q96B26 1-276 view protein structure

Promoters
RGD ID:6790862
Promoter ID:HG_KWN:17573
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000044536
Position:
Human AssemblyChrPosition (strand)Source
Build 361336,470,371 - 36,470,872 (+)MPROMDB
RGD ID:6790702
Promoter ID:HG_KWN:17575
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:ENST00000379809,   ENST00000389704,   NM_181503,   OTTHUMT00000044532,   OTTHUMT00000044534,   OTTHUMT00000044539,   OTTHUMT00000044540,   OTTHUMT00000044542,   UC001UVZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361336,471,511 - 36,473,052 (-)MPROMDB
RGD ID:6790865
Promoter ID:HG_KWN:17576
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000044538,   UC001UWC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361336,473,826 - 36,474,327 (+)MPROMDB
RGD ID:6790863
Promoter ID:HG_KWN:17577
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000044541,   OTTHUMT00000044543
Position:
Human AssemblyChrPosition (strand)Source
Build 361336,475,666 - 36,476,487 (+)MPROMDB
RGD ID:6790860
Promoter ID:HG_KWN:17578
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000044533
Position:
Human AssemblyChrPosition (strand)Source
Build 361336,478,236 - 36,479,522 (+)MPROMDB
RGD ID:7226235
Promoter ID:EPDNEW_H18863
Type:multiple initiation site
Name:EXOSC8_1
Description:exosome component 8
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
GRCh381337,000,788 - 37,000,848EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17035 AgrOrtholog
COSMIC EXOSC8 COSMIC
Ensembl Genes ENSG00000120699 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000239893.9 UniProtKB/TrEMBL
  ENST00000389704 ENTREZGENE
  ENST00000389704.4 UniProtKB/Swiss-Prot
  ENST00000481013.1 UniProtKB/TrEMBL
  ENST00000685624.1 UniProtKB/TrEMBL
  ENST00000686729.1 UniProtKB/TrEMBL
  ENST00000687482.1 UniProtKB/TrEMBL
  ENST00000687944.1 UniProtKB/TrEMBL
  ENST00000688064.1 UniProtKB/TrEMBL
  ENST00000688436.1 UniProtKB/TrEMBL
  ENST00000689744.1 UniProtKB/TrEMBL
  ENST00000689948.1 UniProtKB/TrEMBL
  ENST00000690774.1 UniProtKB/TrEMBL
  ENST00000691611.1 UniProtKB/TrEMBL
  ENST00000692143.1 UniProtKB/TrEMBL
  ENST00000692588.1 UniProtKB/TrEMBL
  ENST00000692636.1 UniProtKB/TrEMBL
  ENST00000692761.1 UniProtKB/TrEMBL
  ENST00000692787.1 UniProtKB/TrEMBL
  ENST00000693100.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.230.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120699 GTEx
HGNC ID HGNC:17035 ENTREZGENE
Human Proteome Map EXOSC8 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
  Exosome_comp_Rrp42_subfam 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
  Rrp43 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11340 UniProtKB/Swiss-Prot
NCBI Gene 11340 ENTREZGENE
OMIM 606019 OMIM
PANTHER EXOSOME COMPLEX EXONUCLEASE RIBOSOMAL RNA PROCESSING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11097:SF9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RNase_PH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_PH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134922251 PharmGKB
Superfamily-SCOP SSF54211 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55666 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I5KNS0_HUMAN UniProtKB/TrEMBL
  A0A8I5KRG4_HUMAN UniProtKB/TrEMBL
  A0A8I5KRX4_HUMAN UniProtKB/TrEMBL
  A0A8I5KVC8_HUMAN UniProtKB/TrEMBL
  A0A8I5QJI7_HUMAN UniProtKB/TrEMBL
  EXOS8_HUMAN UniProtKB/Swiss-Prot
  H7C581_HUMAN UniProtKB/TrEMBL
  H7C5Z2_HUMAN UniProtKB/TrEMBL
  O43480 ENTREZGENE
  Q5JXM0 ENTREZGENE, UniProtKB/TrEMBL
  Q5TBA5 ENTREZGENE
  Q96B26 ENTREZGENE
UniProt Secondary O43480 UniProtKB/Swiss-Prot
  Q5TBA5 UniProtKB/Swiss-Prot