THEM6 (thioesterase superfamily member 6) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: THEM6 (thioesterase superfamily member 6) Homo sapiens
Analyze
Symbol: THEM6
Name: thioesterase superfamily member 6
RGD ID: 1602485
HGNC Page HGNC
Description: Predicted to localize to extracellular region; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C8orf55; DSCD75; mesenchymal stem cell protein DSCD75; UPF0670 protein C8orf55; UPF0670 protein THEM6
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 Ensembl8142,727,223 - 142,736,927 (+)EnsemblGRCh38hg38GRCh38
GRCh388142,727,223 - 142,736,927 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,808,641 - 143,818,345 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,805,623 - 143,815,352 (+)NCBINCBI36hg18NCBI36
Celera8140,119,708 - 140,129,412 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,061,275 - 139,071,020 (+)NCBIHuRef
CHM1_18143,848,894 - 143,858,623 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16303743   PMID:16341674   PMID:17110338   PMID:20360068   PMID:21182205   PMID:22082156   PMID:23956138   PMID:24189400   PMID:24457600   PMID:25665578  
PMID:26186194   PMID:26638075   PMID:26972000   PMID:27173435   PMID:27432908   PMID:28330616   PMID:28380382   PMID:28514442   PMID:28675297   PMID:29180619   PMID:29395067   PMID:29509190  
PMID:30619736   PMID:30804502   PMID:30833792   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31527615   PMID:31980649   PMID:32877691   PMID:33144569  


Genomics

Comparative Map Data
THEM6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,727,223 - 142,736,927 (+)EnsemblGRCh38hg38GRCh38
GRCh388142,727,223 - 142,736,927 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,808,641 - 143,818,345 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,805,623 - 143,815,352 (+)NCBINCBI36hg18NCBI36
Celera8140,119,708 - 140,129,412 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,061,275 - 139,071,020 (+)NCBIHuRef
CHM1_18143,848,894 - 143,858,623 (+)NCBICHM1_1
Them6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391574,593,083 - 74,596,222 (+)NCBIGRCm39mm39
GRCm39 Ensembl1574,593,053 - 74,596,488 (+)Ensembl
GRCm381574,721,234 - 74,724,373 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1574,721,204 - 74,724,639 (+)EnsemblGRCm38mm10GRCm38
MGSCv371574,551,664 - 74,554,803 (+)NCBIGRCm37mm9NCBIm37
MGSCv361574,548,489 - 74,551,628 (+)NCBImm8
Celera1576,226,179 - 76,229,191 (+)NCBICelera
Cytogenetic Map15D3NCBI
Them6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27106,606,570 - 106,609,747 (+)NCBI
Rnor_6.0 Ensembl7115,956,276 - 115,959,453 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07115,956,276 - 115,959,453 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07115,861,665 - 115,864,842 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47112,835,301 - 112,838,479 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17112,869,530 - 112,872,708 (+)NCBI
Celera7103,007,718 - 103,010,896 (+)NCBICelera
Cytogenetic Map7q34NCBI
Them6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554541,433,644 - 1,438,156 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554541,433,644 - 1,438,156 (+)NCBIChiLan1.0ChiLan1.0
THEM6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18142,483,341 - 142,492,912 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8142,483,341 - 142,492,912 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08139,438,777 - 139,448,541 (+)NCBIMhudiblu_PPA_v0panPan3
THEM6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11336,781,892 - 36,787,099 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1336,658,882 - 36,662,862 (+)NCBI
ROS_Cfam_1.01337,186,302 - 37,190,283 (+)NCBI
UMICH_Zoey_3.11336,905,020 - 36,908,998 (+)NCBI
UNSW_CanFamBas_1.01336,994,650 - 36,998,626 (+)NCBI
UU_Cfam_GSD_1.01337,416,744 - 37,420,727 (+)NCBI
Them6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,711,254 - 1,714,943 (-)NCBI
SpeTri2.0NW_0049364709,138,779 - 9,141,016 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
THEM6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,471,461 - 1,475,578 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,471,458 - 1,476,104 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
THEM6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18136,980,611 - 136,989,289 (+)NCBI
ChlSab1.1 Ensembl8136,980,609 - 136,989,294 (+)Ensembl
Them6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,910,570 - 13,914,528 (-)NCBI

Position Markers
RH98969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,817,975 - 143,818,105UniSTSGRCh37
Build 368143,814,977 - 143,815,107RGDNCBI36
Celera8140,129,037 - 140,129,167RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,070,645 - 139,070,775UniSTS
GeneMap99-GB4 RH Map8549.39UniSTS
RH15611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,818,151 - 143,818,302UniSTSGRCh37
Build 368143,815,153 - 143,815,304RGDNCBI36
Celera8140,129,213 - 140,129,364RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,070,821 - 139,070,972UniSTS
GeneMap99-GB4 RH Map8546.79UniSTS
A009E39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,818,135 - 143,818,324UniSTSGRCh37
Build 368143,815,137 - 143,815,326RGDNCBI36
Celera8140,129,197 - 140,129,386RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,070,805 - 139,070,994UniSTS
GeneMap99-GB4 RH Map8549.39UniSTS
G32486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,818,135 - 143,818,324UniSTSGRCh37
Celera8140,129,197 - 140,129,386UniSTS
Cytogenetic Map8q24.3UniSTS
HuRef8139,070,805 - 139,070,994UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1605
Count of miRNA genes:746
Interacting mature miRNAs:891
Transcripts:ENST00000336138, ENST00000518798, ENST00000520217
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 2083 1370 1677 600 1099 442 3217 1290 3244 395 1105 1509 171 1139 1871 3
Low 356 1615 49 24 840 23 1134 907 490 24 354 104 4 1 65 917 3 2
Below cutoff 6 10 5

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000336138   ⟹   ENSP00000338607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,727,223 - 142,736,927 (+)Ensembl
RefSeq Acc Id: ENST00000518798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,734,530 - 142,736,925 (+)Ensembl
RefSeq Acc Id: ENST00000520217   ⟹   ENSP00000427970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,727,723 - 142,736,927 (+)Ensembl
RefSeq Acc Id: NM_001363000   ⟹   NP_001349929
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,727,223 - 142,736,927 (+)NCBI
RefSeq Acc Id: NM_016647   ⟹   NP_057731
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,727,223 - 142,736,927 (+)NCBI
GRCh378143,808,621 - 143,818,350 (+)RGD
Build 368143,805,623 - 143,815,352 (+)NCBI Archive
Celera8140,119,708 - 140,129,412 (+)RGD
HuRef8139,061,275 - 139,071,020 (+)ENTREZGENE
CHM1_18143,848,894 - 143,858,623 (+)NCBI
Sequence:
RefSeq Acc Id: NR_156431
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,727,223 - 142,736,927 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_057731   ⟸   NM_016647
- Peptide Label: isoform 1
- UniProtKB: Q8WUY1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001349929   ⟸   NM_001363000
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000338607   ⟸   ENST00000336138
RefSeq Acc Id: ENSP00000427970   ⟸   ENST00000520217

Promoters
RGD ID:7214293
Promoter ID:EPDNEW_H12893
Type:initiation region
Name:THEM6_1
Description:thioesterase superfamily member 6
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
GRCh388142,727,274 - 142,727,334EPDNEW
RGD ID:6806544
Promoter ID:HG_KWN:62233
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_016647
Position:
Human AssemblyChrPosition (strand)Source
Build 368143,804,876 - 143,805,752 (+)MPROMDB
RGD ID:6806546
Promoter ID:HG_KWN:62234
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:UC003YWX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368143,812,906 - 143,814,907 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 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 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 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
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(chr8:143762893-143867731)x3 copy number gain See cases [RCV000239918] Chr8:143762893..143867731 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 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 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 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 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 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 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 copy number gain not provided [RCV000846118] Chr8:142988974..144218537 [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 8q24.3(chr8:143786100-143964656)x3 copy number gain not provided [RCV000849655] Chr8:143786100..143964656 [GRCh37]
Chr8:8q24.3
uncertain significance
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
GRCh37/hg19 8q24.3(chr8:143728492-144093928)x3 copy number gain not provided [RCV001006153] Chr8:143728492..144093928 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.21-24.3(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(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29656 AgrOrtholog
COSMIC THEM6 COSMIC
Ensembl Genes ENSG00000130193 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000338607 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427970 UniProtKB/TrEMBL
Ensembl Transcript ENST00000336138 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520217 UniProtKB/TrEMBL
GTEx ENSG00000130193 GTEx
HGNC ID HGNC:29656 ENTREZGENE
Human Proteome Map THEM6 Human Proteome Map
InterPro HotDog_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:51337 UniProtKB/Swiss-Prot
NCBI Gene 51337 ENTREZGENE
PharmGKB PA142672318 PharmGKB
Superfamily-SCOP SSF54637 UniProtKB/Swiss-Prot
UniProt H0YAR9_HUMAN UniProtKB/TrEMBL
  Q8WUY1 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RDN6 UniProtKB/Swiss-Prot
  Q8NBN2 UniProtKB/Swiss-Prot
  Q9NYI2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-04-24 THEM6  thioesterase superfamily member 6  C8orf55  chromosome 8 open reading frame 55  Symbol and/or name change 5135510 APPROVED