DHX8 (DEAH-box helicase 8) - Rat Genome Database

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Gene: DHX8 (DEAH-box helicase 8) Homo sapiens
Analyze
Symbol: DHX8
Name: DEAH-box helicase 8
RGD ID: 1321795
HGNC Page HGNC:2749
Description: Enables identical protein binding activity. Involved in mRNA splicing, via spliceosome. Located in cytosol and nuclear body. Part of U2-type catalytic step 2 spliceosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-dependent RNA helicase DHX8; DDX8; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase); DEAH (Asp-Glu-Ala-His) box polypeptide 8; DEAH box protein 8; DEAH-box protein 8; Dhr2; HRH1; PRP22; PRPF22; RNA helicase HRH1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381743,483,975 - 43,544,799 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1743,483,865 - 43,610,338 (+)EnsemblGRCh38hg38GRCh38
GRCh371741,561,343 - 41,622,167 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361738,916,860 - 38,957,206 (+)NCBINCBI36Build 36hg18NCBI36
Build 341738,916,859 - 38,957,206NCBI
Celera1738,271,030 - 38,311,335 (+)NCBICelera
Cytogenetic Map17q21.31NCBI
HuRef1737,326,284 - 37,366,569 (+)NCBIHuRef
CHM1_11741,797,051 - 41,837,403 (+)NCBICHM1_1
T2T-CHM13v2.01744,336,445 - 44,397,274 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Functions of the DExD/H-box proteins in nuclear pre-mRNA splicing. Chang TH, etal., Biochim Biophys Acta. 2013 Aug;1829(8):764-74. doi: 10.1016/j.bbagrm.2013.02.006. Epub 2013 Feb 21.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7935475   PMID:8608946   PMID:11991638   PMID:12477932   PMID:15635413   PMID:16094384   PMID:16820410   PMID:18029348   PMID:18729074   PMID:19615732   PMID:19724143   PMID:20467437  
PMID:21145461   PMID:21873635   PMID:22365833   PMID:22404213   PMID:22586326   PMID:22658674   PMID:22681889   PMID:22939629   PMID:23022380   PMID:23096351   PMID:23345399   PMID:23602568  
PMID:23771891   PMID:23824909   PMID:24711643   PMID:24778252   PMID:25036637   PMID:25693804   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27684187   PMID:28062851  
PMID:28076346   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28695742   PMID:29117863   PMID:29128334   PMID:29395067   PMID:29507755   PMID:29509190   PMID:29802200  
PMID:29955894   PMID:30021884   PMID:30191368   PMID:30585729   PMID:30804502   PMID:30948266   PMID:31300519   PMID:31409651   PMID:31527615   PMID:31586073   PMID:32744500   PMID:32807901  
PMID:33536335   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34373451   PMID:34672954   PMID:34709727   PMID:35241646   PMID:35263596   PMID:35271311   PMID:35509820   PMID:35545047  
PMID:35831314   PMID:35850772   PMID:35944360   PMID:36089195   PMID:36215168   PMID:36217029   PMID:36232890   PMID:36526897   PMID:36560452   PMID:36574265   PMID:36607699   PMID:36912080  
PMID:37689310   PMID:37827155   PMID:38282418  


Genomics

Comparative Map Data
DHX8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381743,483,975 - 43,544,799 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1743,483,865 - 43,610,338 (+)EnsemblGRCh38hg38GRCh38
GRCh371741,561,343 - 41,622,167 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361738,916,860 - 38,957,206 (+)NCBINCBI36Build 36hg18NCBI36
Build 341738,916,859 - 38,957,206NCBI
Celera1738,271,030 - 38,311,335 (+)NCBICelera
Cytogenetic Map17q21.31NCBI
HuRef1737,326,284 - 37,366,569 (+)NCBIHuRef
CHM1_11741,797,051 - 41,837,403 (+)NCBICHM1_1
T2T-CHM13v2.01744,336,445 - 44,397,274 (+)NCBIT2T-CHM13v2.0
Dhx8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911101,623,782 - 101,658,184 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11101,623,745 - 101,658,184 (+)EnsemblGRCm39 Ensembl
GRCm3811101,732,956 - 101,767,358 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11101,732,919 - 101,767,358 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711101,594,270 - 101,628,672 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611101,549,046 - 101,583,448 (+)NCBIMGSCv36mm8
Celera11113,434,377 - 113,468,983 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1165.48NCBI
Dhx8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81087,167,861 - 87,204,426 (+)NCBIGRCr8
mRatBN7.21086,667,641 - 86,704,198 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1086,667,834 - 86,705,137 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1091,703,802 - 91,740,038 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01091,179,425 - 91,215,662 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01086,572,723 - 86,608,953 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01089,645,979 - 89,683,839 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1089,645,973 - 89,683,446 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01089,442,169 - 89,479,672 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41090,769,567 - 90,806,827 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11090,783,912 - 90,821,197 (+)NCBI
Celera1085,390,036 - 85,426,632 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Dhx8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545116,941,215 - 16,965,093 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545116,941,422 - 16,963,690 (+)NCBIChiLan1.0ChiLan1.0
DHX8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21921,381,073 - 21,424,190 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11723,345,408 - 23,388,540 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01713,870,392 - 13,913,290 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11714,117,203 - 14,159,825 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1714,117,231 - 14,159,773 (-)Ensemblpanpan1.1panPan2
DHX8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1919,734,356 - 19,766,212 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl919,729,816 - 19,766,555 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha919,122,727 - 19,155,072 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0920,428,855 - 20,461,224 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl920,428,886 - 20,461,308 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1919,281,808 - 19,314,420 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0919,464,484 - 19,497,088 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0919,610,014 - 19,642,387 (-)NCBIUU_Cfam_GSD_1.0
Dhx8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560219,072,422 - 19,109,225 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493654185,252 - 123,040 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493654185,273 - 122,161 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DHX8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1219,549,286 - 19,582,154 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11219,549,280 - 19,582,090 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21219,859,960 - 19,890,631 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DHX8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11662,887,115 - 62,925,119 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1662,887,594 - 62,925,061 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607733,649,859 - 33,694,193 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dhx8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247951,092,040 - 1,117,859 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247951,092,040 - 1,117,888 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DHX8
63 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31		 pathogenic
NM_004941.2(DHX8):c.2198C>T (p.Pro733Leu) single nucleotide variant Malignant melanoma [RCV000071498] Chr17:43507897 [GRCh38]
Chr17:41585265 [GRCh37]
Chr17:38940791 [NCBI36]
Chr17:17q21.31		 not provided
NM_001079675.5(ETV4):c.1078A>G (p.Ile360Val) single nucleotide variant not specified [RCV004254572] Chr17:43529554 [GRCh38]
Chr17:41606922 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.619G>A (p.Ala207Thr) single nucleotide variant not specified [RCV004268199] Chr17:43532866 [GRCh38]
Chr17:41610234 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q21.31(chr17:43387123-43865083)x3 copy number gain See cases [RCV000137096] Chr17:43387123..43865083 [GRCh38]
Chr17:41464491..41942451 [GRCh37]
Chr17:38820017..39297977 [NCBI36]
Chr17:17q21.31		 uncertain significance
GRCh38/hg38 17q21.31(chr17:43080123-43897875)x3 copy number gain See cases [RCV000137690] Chr17:43080123..43897875 [GRCh38]
Chr17:41232140..41975243 [GRCh37]
Chr17:38485666..39330769 [NCBI36]
Chr17:17q21.31		 uncertain significance
GRCh38/hg38 17q21.31(chr17:43088882-43865172)x3 copy number gain See cases [RCV000139057] Chr17:43088882..43865172 [GRCh38]
Chr17:41240899..41942540 [GRCh37]
Chr17:38494425..39298066 [NCBI36]
Chr17:17q21.31		 uncertain significance
GRCh38/hg38 17q21.31(chr17:43124234-43520458)x3 copy number gain See cases [RCV000139459] Chr17:43124234..43520458 [GRCh38]
Chr17:41276251..41597826 [GRCh37]
Chr17:38529777..38953352 [NCBI36]
Chr17:17q21.31		 uncertain significance
GRCh38/hg38 17q21.31(chr17:43322528-43849385)x3 copy number gain See cases [RCV000142192] Chr17:43322528..43849385 [GRCh38]
Chr17:41399892..41926753 [GRCh37]
Chr17:38755418..39282279 [NCBI36]
Chr17:17q21.31		 likely benign|uncertain significance
GRCh38/hg38 17q21.31(chr17:43050945-43897883)x3 copy number gain See cases [RCV000143635] Chr17:43050945..43897883 [GRCh38]
Chr17:41202962..41975251 [GRCh37]
Chr17:38456488..39330777 [NCBI36]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.877G>T (p.Gly293Trp) single nucleotide variant not specified [RCV004275497] Chr17:43530116 [GRCh38]
Chr17:41607484 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_004941.3(DHX8):c.211G>A (p.Val71Ile) single nucleotide variant not specified [RCV004300273] Chr17:43489511 [GRCh38]
Chr17:41566879 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.604C>T (p.Arg202Trp) single nucleotide variant not specified [RCV004299684] Chr17:43532881 [GRCh38]
Chr17:41610249 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.3223G>T (p.Ala1075Ser) single nucleotide variant not specified [RCV004304476] Chr17:43521525 [GRCh38]
Chr17:41598893 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.581G>A (p.Arg194Gln) single nucleotide variant not specified [RCV004294874] Chr17:43492758 [GRCh38]
Chr17:41570126 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.694C>A (p.Pro232Thr) single nucleotide variant not specified [RCV004286294] Chr17:43532791 [GRCh38]
Chr17:41610159 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.4G>T (p.Ala2Ser) single nucleotide variant not specified [RCV004297360] Chr17:43484041 [GRCh38]
Chr17:41561409 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.10:g.(?_41276016)_(41635727_?)dup duplication Hereditary breast ovarian cancer syndrome [RCV000708493] Chr17:41276016..41635727 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh37/hg19 17q21.31(chr17:41464491-41835873)x3 copy number gain not provided [RCV000659194] Chr17:41464491..41835873 [GRCh37]
Chr17:17q21.31		 likely benign
GRCh37/hg19 17q21.31(chr17:41540257-42044249)x1 copy number loss not provided [RCV000683936] Chr17:41540257..42044249 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.31(chr17:41276175-41632324)x3 copy number gain not provided [RCV000739518] Chr17:41276175..41632324 [GRCh37]
Chr17:17q21.31		 benign
NM_001079675.5(ETV4):c.1231-137A>G single nucleotide variant not provided [RCV001648202] Chr17:43528880 [GRCh38]
Chr17:41606248 [GRCh37]
Chr17:17q21.31		 benign
NM_001079675.5(ETV4):c.583T>A (p.Phe195Ile) single nucleotide variant not provided [RCV000959767] Chr17:43532902 [GRCh38]
Chr17:41610270 [GRCh37]
Chr17:17q21.31		 benign
NM_001079675.5(ETV4):c.343C>T (p.Pro115Ser) single nucleotide variant not provided [RCV000908075] Chr17:43533899 [GRCh38]
Chr17:41611267 [GRCh37]
Chr17:17q21.31		 likely benign
NM_001079675.5(ETV4):c.549C>T (p.Ser183=) single nucleotide variant not provided [RCV000915781] Chr17:43532936 [GRCh38]
Chr17:41610304 [GRCh37]
Chr17:17q21.31		 likely benign
NM_001079675.5(ETV4):c.278C>G (p.Thr93Ser) single nucleotide variant not provided [RCV000947827] Chr17:43533964 [GRCh38]
Chr17:41611332 [GRCh37]
Chr17:17q21.31		 benign
NM_004941.3(DHX8):c.3444-10C>T single nucleotide variant not provided [RCV000964151] Chr17:43523618 [GRCh38]
Chr17:41600986 [GRCh37]
Chr17:17q21.31		 benign
NM_001079675.5(ETV4):c.256+285GTTT[5] microsatellite not provided [RCV001643690] Chr17:43536118..43536121 [GRCh38]
Chr17:41613486..41613489 [GRCh37]
Chr17:17q21.31		 benign
NM_004941.3(DHX8):c.734A>T (p.Asn245Ile) single nucleotide variant not specified [RCV004303107] Chr17:43492911 [GRCh38]
Chr17:41570279 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh37/hg19 17q21.31(chr17:41440122-41745139)x3 copy number gain not provided [RCV000846232] Chr17:41440122..41745139 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.256+103C>A single nucleotide variant not provided [RCV001685144] Chr17:43536323 [GRCh38]
Chr17:41613691 [GRCh37]
Chr17:17q21.31		 benign
NM_001079675.5(ETV4):c.998C>T (p.Pro333Leu) single nucleotide variant not specified [RCV004299868] Chr17:43529634 [GRCh38]
Chr17:41607002 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.1298C>T (p.Pro433Leu) single nucleotide variant not provided [RCV000907128] Chr17:43528676 [GRCh38]
Chr17:41606044 [GRCh37]
Chr17:17q21.31		 likely benign
NM_004941.3(DHX8):c.2055C>T (p.Asp685=) single nucleotide variant not provided [RCV000907651] Chr17:43507634 [GRCh38]
Chr17:41585002 [GRCh37]
Chr17:17q21.31		 likely benign
NM_001079675.5(ETV4):c.812-454AC[9] microsatellite not provided [RCV001723188] Chr17:43530610..43530617 [GRCh38]
Chr17:41607978..41607985 [GRCh37]
Chr17:17q21.31		 benign
NM_001079675.5(ETV4):c.546-91G>A single nucleotide variant not provided [RCV001657101] Chr17:43533030 [GRCh38]
Chr17:41610398 [GRCh37]
Chr17:17q21.31		 benign
GRCh37/hg19 17q21.31(chr17:41399892-41736186)x3 copy number gain not provided [RCV001006902] Chr17:41399892..41736186 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh37/hg19 17q21.31(chr17:41384515-41599383)x4 copy number gain not provided [RCV001006901] Chr17:41384515..41599383 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.812-454A>T single nucleotide variant not provided [RCV001645312] Chr17:43530635 [GRCh38]
Chr17:41608003 [GRCh37]
Chr17:17q21.31		 benign
GRCh37/hg19 17q21.31(chr17:41399892-42125780)x3 copy number gain not provided [RCV001006903] Chr17:41399892..42125780 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh37/hg19 17q21.31(chr17:41221565-41775043)x3 copy number gain not provided [RCV001259896] Chr17:41221565..41775043 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.812-428G>A single nucleotide variant not provided [RCV001668889] Chr17:43530609 [GRCh38]
Chr17:41607977 [GRCh37]
Chr17:17q21.31		 benign
NM_001079675.5(ETV4):c.812-429CG[3] microsatellite not provided [RCV001669470] Chr17:43530603..43530604 [GRCh38]
Chr17:41607971..41607972 [GRCh37]
Chr17:17q21.31		 benign
NM_001079675.5(ETV4):c.1129-107C>T single nucleotide variant not provided [RCV001670500] Chr17:43529343 [GRCh38]
Chr17:41606711 [GRCh37]
Chr17:17q21.31		 benign
NM_001079675.5(ETV4):c.1244G>A (p.Arg415His) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001849612] Chr17:43528730 [GRCh38]
Chr17:41606098 [GRCh37]
Chr17:17q21.31		 likely pathogenic
GRCh37/hg19 17q21.31(chr17:41202796-41974964) copy number gain not specified [RCV002052596] Chr17:41202796..41974964 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.161T>C (p.Ile54Thr) single nucleotide variant not specified [RCV004154078] Chr17:43489461 [GRCh38]
Chr17:41566829 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.523A>C (p.Lys175Gln) single nucleotide variant not specified [RCV004116728] Chr17:43492700 [GRCh38]
Chr17:41570068 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.217A>G (p.Ser73Gly) single nucleotide variant not specified [RCV004242620] Chr17:43536465 [GRCh38]
Chr17:41613833 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.716A>G (p.Gln239Arg) single nucleotide variant not specified [RCV004144157] Chr17:43532769 [GRCh38]
Chr17:41610137 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.308G>A (p.Arg103His) single nucleotide variant not specified [RCV004142818] Chr17:43533934 [GRCh38]
Chr17:41611302 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.2189A>G (p.Tyr730Cys) single nucleotide variant not specified [RCV004172313] Chr17:43507888 [GRCh38]
Chr17:41585256 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.286G>A (p.Ala96Thr) single nucleotide variant not specified [RCV004124587] Chr17:43490442 [GRCh38]
Chr17:41567810 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.1427T>C (p.Phe476Ser) single nucleotide variant not specified [RCV004237966] Chr17:43528547 [GRCh38]
Chr17:41605915 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.223G>A (p.Glu75Lys) single nucleotide variant not specified [RCV004133437] Chr17:43536459 [GRCh38]
Chr17:41613827 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.1393T>C (p.Tyr465His) single nucleotide variant not specified [RCV004226354] Chr17:43528581 [GRCh38]
Chr17:41605949 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.533G>A (p.Arg178Gln) single nucleotide variant not specified [RCV004220384] Chr17:43492710 [GRCh38]
Chr17:41570078 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.55G>A (p.Ala19Thr) single nucleotide variant not specified [RCV004086492] Chr17:43484092 [GRCh38]
Chr17:41561460 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.2935C>T (p.Arg979Trp) single nucleotide variant not specified [RCV004131248] Chr17:43520265 [GRCh38]
Chr17:41597633 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.593A>T (p.His198Leu) single nucleotide variant not specified [RCV004127504] Chr17:43492770 [GRCh38]
Chr17:41570138 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.503C>T (p.Thr168Ile) single nucleotide variant not specified [RCV004102946] Chr17:43533229 [GRCh38]
Chr17:41610597 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.285C>G (p.Ile95Met) single nucleotide variant not specified [RCV004175682] Chr17:43533957 [GRCh38]
Chr17:41611325 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.980G>A (p.Gly327Asp) single nucleotide variant not specified [RCV004102573] Chr17:43529652 [GRCh38]
Chr17:41607020 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.859C>G (p.Leu287Val) single nucleotide variant not specified [RCV004071464] Chr17:43493036 [GRCh38]
Chr17:41570404 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.573T>G (p.Ile191Met) single nucleotide variant not specified [RCV004179801] Chr17:43532912 [GRCh38]
Chr17:41610280 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.1004A>G (p.Tyr335Cys) single nucleotide variant not specified [RCV004094659] Chr17:43529628 [GRCh38]
Chr17:41606996 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.3049G>A (p.Val1017Ile) single nucleotide variant not specified [RCV004112248] Chr17:43520862 [GRCh38]
Chr17:41598230 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.379T>C (p.Ser127Pro) single nucleotide variant not specified [RCV004223668] Chr17:43533863 [GRCh38]
Chr17:41611231 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.559G>C (p.Asp187His) single nucleotide variant not specified [RCV004071217] Chr17:43492736 [GRCh38]
Chr17:41570104 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.605G>A (p.Arg202Gln) single nucleotide variant not specified [RCV004214802] Chr17:43532880 [GRCh38]
Chr17:41610248 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.1640A>T (p.Lys547Ile) single nucleotide variant not specified [RCV004179989] Chr17:43504737 [GRCh38]
Chr17:41582105 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.1732G>A (p.Val578Ile) single nucleotide variant not specified [RCV004205493] Chr17:43507006 [GRCh38]
Chr17:41584374 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.934G>A (p.Val312Ile) single nucleotide variant not specified [RCV004193607] Chr17:43529905 [GRCh38]
Chr17:41607273 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.896A>G (p.Tyr299Cys) single nucleotide variant not specified [RCV004166988] Chr17:43529943 [GRCh38]
Chr17:41607311 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.526C>T (p.Arg176Trp) single nucleotide variant not specified [RCV004264289] Chr17:43492703 [GRCh38]
Chr17:41570071 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.28G>T (p.Ala10Ser) single nucleotide variant not specified [RCV004276623] Chr17:43484065 [GRCh38]
Chr17:41561433 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.322C>T (p.Pro108Ser) single nucleotide variant not specified [RCV004284999] Chr17:43491179 [GRCh38]
Chr17:41568547 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.1592T>C (p.Met531Thr) single nucleotide variant not specified [RCV004267179] Chr17:43504689 [GRCh38]
Chr17:41582057 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.3319A>G (p.Ile1107Val) single nucleotide variant not specified [RCV004329308] Chr17:43522102 [GRCh38]
Chr17:41599470 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.1309C>T (p.Arg437Cys) single nucleotide variant not provided [RCV003413245] Chr17:43528665 [GRCh38]
Chr17:41606033 [GRCh37]
Chr17:17q21.31		 benign
NM_004941.3(DHX8):c.1063G>A (p.Val355Ile) single nucleotide variant not specified [RCV004338316] Chr17:43493737 [GRCh38]
Chr17:41571105 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.2344G>A (p.Gly782Ser) single nucleotide variant not specified [RCV004336070] Chr17:43508362 [GRCh38]
Chr17:41585730 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.2800-4C>A single nucleotide variant not provided [RCV003428290] Chr17:43520126 [GRCh38]
Chr17:41597494 [GRCh37]
Chr17:17q21.31		 likely benign
NM_004941.3(DHX8):c.803A>G (p.Tyr268Cys) single nucleotide variant not specified [RCV004373680] Chr17:43492980 [GRCh38]
Chr17:41570348 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.3067G>A (p.Asp1023Asn) single nucleotide variant not specified [RCV004373677] Chr17:43521369 [GRCh38]
Chr17:41598737 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.512C>T (p.Thr171Ile) single nucleotide variant not specified [RCV004373678] Chr17:43492689 [GRCh38]
Chr17:41570057 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.140A>G (p.Lys47Arg) single nucleotide variant not specified [RCV004373675] Chr17:43484177 [GRCh38]
Chr17:41561545 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_004941.3(DHX8):c.908A>C (p.Glu303Ala) single nucleotide variant not specified [RCV004373681] Chr17:43493489 [GRCh38]
Chr17:41570857 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.523C>A (p.His175Asn) single nucleotide variant ETV4-related condition [RCV003971528] Chr17:43533209 [GRCh38]
Chr17:41610577 [GRCh37]
Chr17:17q21.31		 likely benign
NM_004941.3(DHX8):c.26G>T (p.Gly9Val) single nucleotide variant not specified [RCV004373676] Chr17:43484063 [GRCh38]
Chr17:41561431 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.346C>T (p.Leu116Phe) single nucleotide variant not specified [RCV004383170] Chr17:43533896 [GRCh38]
Chr17:41611264 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.1351G>A (p.Glu451Lys) single nucleotide variant not specified [RCV004383167] Chr17:43528623 [GRCh38]
Chr17:41605991 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.1388C>G (p.Pro463Arg) single nucleotide variant not specified [RCV004383168] Chr17:43528586 [GRCh38]
Chr17:41605954 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.1015G>A (p.Gly339Ser) single nucleotide variant not specified [RCV004383166] Chr17:43529617 [GRCh38]
Chr17:41606985 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.885G>C (p.Met295Ile) single nucleotide variant not specified [RCV004383174] Chr17:43530108 [GRCh38]
Chr17:41607476 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.934G>C (p.Val312Leu) single nucleotide variant not specified [RCV004383175] Chr17:43529905 [GRCh38]
Chr17:41607273 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_001079675.5(ETV4):c.791C>T (p.Thr264Met) single nucleotide variant not specified [RCV004383173] Chr17:43532694 [GRCh38]
Chr17:41610062 [GRCh37]
Chr17:17q21.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2023
Count of miRNA genes:1020
Interacting mature miRNAs:1197
Transcripts:ENST00000262415, ENST00000540306, ENST00000587044, ENST00000587574, ENST00000589898, ENST00000592258, ENST00000605777
Prediction methods:Miranda, Pita, 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.

Markers in Region
RH94131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,603,886 - 41,604,026UniSTSGRCh37
Build 361738,959,412 - 38,959,552RGDNCBI36
Celera1738,313,541 - 38,313,681RGD
Cytogenetic Map17q21.31UniSTS
HuRef1737,368,783 - 37,368,923UniSTS
GeneMap99-GB4 RH Map17320.49UniSTS
D17S1234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,566,567 - 41,566,713UniSTSGRCh37
GRCh371812,390,397 - 12,392,039UniSTSGRCh37
Build 361738,922,093 - 38,922,239RGDNCBI36
Celera1812,271,153 - 12,272,795UniSTS
Celera1738,276,262 - 38,276,408RGD
Cytogenetic Map17q21.31UniSTS
HuRef1737,331,518 - 37,331,664UniSTS
HuRef1812,344,131 - 12,345,773UniSTS
SHGC-148771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,567,288 - 41,567,483UniSTSGRCh37
Build 361738,922,814 - 38,923,009RGDNCBI36
Celera1738,276,983 - 38,277,178RGD
Cytogenetic Map17q21.31UniSTS
TNG Radiation Hybrid Map1719817.0UniSTS
DHX8__4735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,601,032 - 41,601,771UniSTSGRCh37
Build 361738,956,558 - 38,957,297RGDNCBI36
Celera1738,310,687 - 38,311,426RGD
NIB1920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,601,437 - 41,601,595UniSTSGRCh37
Build 361738,956,963 - 38,957,121RGDNCBI36
Celera1738,311,092 - 38,311,250RGD
Cytogenetic Map17q21.31UniSTS
HuRef1737,366,362 - 37,366,520UniSTS
GeneMap99-GB4 RH Map17320.18UniSTS
NCBI RH Map17540.6UniSTS
L18196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,600,774 - 41,600,893UniSTSGRCh37
Build 361738,956,300 - 38,956,419RGDNCBI36
Celera1738,310,429 - 38,310,548RGD
Cytogenetic Map17q21.31UniSTS
HuRef1737,365,699 - 37,365,818UniSTS
D17S1200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,576,999 - 41,577,129UniSTSGRCh37
Build 361738,932,525 - 38,932,655RGDNCBI36
Celera1738,286,695 - 38,286,825RGD
Cytogenetic Map17q21.31UniSTS
HuRef1737,341,901 - 37,342,031UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2100 1839 1232 244 1612 98 3881 1211 1550 228 1407 1570 163 1 1156 2323 5 2
Low 339 1152 494 380 339 367 476 986 2184 191 53 43 12 48 465 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001302623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE890949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC310785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262415   ⟹   ENSP00000262415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1743,483,975 - 43,525,670 (+)Ensembl
RefSeq Acc Id: ENST00000540306   ⟹   ENSP00000437886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1743,483,963 - 43,526,786 (+)Ensembl
RefSeq Acc Id: ENST00000587044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1743,491,194 - 43,526,796 (+)Ensembl
RefSeq Acc Id: ENST00000587574   ⟹   ENSP00000465178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1743,522,152 - 43,526,803 (+)Ensembl
RefSeq Acc Id: ENST00000588996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1743,544,785 - 43,610,338 (+)Ensembl
RefSeq Acc Id: ENST00000589898   ⟹   ENSP00000466900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1743,483,975 - 43,544,799 (+)Ensembl
RefSeq Acc Id: ENST00000592258   ⟹   ENSP00000467834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1743,483,865 - 43,492,292 (+)Ensembl
RefSeq Acc Id: ENST00000605777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1743,484,140 - 43,490,493 (+)Ensembl
RefSeq Acc Id: ENST00000650571   ⟹   ENSP00000496923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1743,483,960 - 43,590,741 (+)Ensembl
RefSeq Acc Id: NM_001302623   ⟹   NP_001289552
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381743,483,975 - 43,526,790 (+)NCBI
CHM1_11741,797,002 - 41,839,887 (+)NCBI
T2T-CHM13v2.01744,336,445 - 44,379,265 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322216   ⟹   NP_001309145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381743,483,975 - 43,525,670 (+)NCBI
CHM1_11741,796,950 - 41,837,412 (+)NCBI
T2T-CHM13v2.01744,336,445 - 44,378,145 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322217   ⟹   NP_001309146
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381743,483,975 - 43,525,670 (+)NCBI
CHM1_11741,796,950 - 41,837,412 (+)NCBI
T2T-CHM13v2.01744,336,445 - 44,378,145 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322218   ⟹   NP_001309147
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381743,483,975 - 43,526,790 (+)NCBI
CHM1_11741,796,950 - 41,839,913 (+)NCBI
T2T-CHM13v2.01744,336,445 - 44,379,265 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322219   ⟹   NP_001309148
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381743,483,975 - 43,544,799 (+)NCBI
CHM1_11741,796,950 - 41,857,876 (+)NCBI
T2T-CHM13v2.01744,336,445 - 44,397,274 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322220   ⟹   NP_001309149
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381743,483,975 - 43,526,790 (+)NCBI
CHM1_11741,796,950 - 41,839,913 (+)NCBI
T2T-CHM13v2.01744,336,445 - 44,379,265 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322221   ⟹   NP_001309150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381743,483,975 - 43,525,670 (+)NCBI
CHM1_11741,796,950 - 41,837,412 (+)NCBI
T2T-CHM13v2.01744,336,445 - 44,378,145 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004941   ⟹   NP_004932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381743,483,975 - 43,525,670 (+)NCBI
GRCh371741,561,330 - 41,604,185 (+)NCBI
Build 361738,916,860 - 38,957,206 (+)NCBI Archive
Celera1738,271,030 - 38,311,335 (+)RGD
HuRef1737,326,284 - 37,366,569 (+)ENTREZGENE
CHM1_11741,797,002 - 41,837,412 (+)NCBI
T2T-CHM13v2.01744,336,445 - 44,378,145 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136225
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381743,483,975 - 43,525,670 (+)NCBI
CHM1_11741,796,950 - 41,837,412 (+)NCBI
T2T-CHM13v2.01744,336,445 - 44,378,145 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136226
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381743,483,975 - 43,525,670 (+)NCBI
CHM1_11741,796,950 - 41,837,412 (+)NCBI
T2T-CHM13v2.01744,336,445 - 44,378,145 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136227
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381743,483,975 - 43,525,670 (+)NCBI
CHM1_11741,796,950 - 41,837,412 (+)NCBI
T2T-CHM13v2.01744,336,445 - 44,378,145 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136228
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381743,483,975 - 43,526,790 (+)NCBI
CHM1_11741,796,950 - 41,839,913 (+)NCBI
T2T-CHM13v2.01744,336,445 - 44,379,265 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_004932   ⟸   NM_004941
- Peptide Label: isoform 1
- UniProtKB: Q14562 (UniProtKB/Swiss-Prot),   Q86YB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289552   ⟸   NM_001302623
- Peptide Label: isoform 2
- UniProtKB: B7Z8F4 (UniProtKB/TrEMBL),   F5H658 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309148   ⟸   NM_001322219
- Peptide Label: isoform 6
- UniProtKB: K7END7 (UniProtKB/TrEMBL),   B7Z8F4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309149   ⟸   NM_001322220
- Peptide Label: isoform 7
- UniProtKB: B7Z8F4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309147   ⟸   NM_001322218
- Peptide Label: isoform 5
- UniProtKB: B7Z8F4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309145   ⟸   NM_001322216
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001309150   ⟸   NM_001322221
- Peptide Label: isoform 8
- UniProtKB: Q86YB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309146   ⟸   NM_001322217
- Peptide Label: isoform 4
- UniProtKB: Q86YB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000496923   ⟸   ENST00000650571
RefSeq Acc Id: ENSP00000465178   ⟸   ENST00000587574
RefSeq Acc Id: ENSP00000466900   ⟸   ENST00000589898
RefSeq Acc Id: ENSP00000262415   ⟸   ENST00000262415
RefSeq Acc Id: ENSP00000467834   ⟸   ENST00000592258
RefSeq Acc Id: ENSP00000437886   ⟸   ENST00000540306
Protein Domains
Helicase ATP-binding   Helicase C-terminal   S1 motif

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14562-F1-model_v2 AlphaFold Q14562 1-1220 view protein structure

Promoters
RGD ID:6793931
Promoter ID:HG_KWN:26264
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004941
Position:
Human AssemblyChrPosition (strand)Source
Build 361738,916,581 - 38,917,081 (+)MPROMDB
RGD ID:7235185
Promoter ID:EPDNEW_H23337
Type:initiation region
Name:DHX8_1
Description:DEAH-box helicase 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
GRCh381743,483,984 - 43,484,044EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2749 AgrOrtholog
COSMIC DHX8 COSMIC
Ensembl Genes ENSG00000067596 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262415 ENTREZGENE
  ENST00000262415.8 UniProtKB/Swiss-Prot
  ENST00000540306 ENTREZGENE
  ENST00000540306.5 UniProtKB/TrEMBL
  ENST00000587574.1 UniProtKB/TrEMBL
  ENST00000589898 ENTREZGENE
  ENST00000589898.2 UniProtKB/TrEMBL
  ENST00000592258.5 UniProtKB/TrEMBL
  ENST00000650571.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.120.1080 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000067596 GTEx
HGNC ID HGNC:2749 ENTREZGENE
Human Proteome Map DHX8 Human Proteome Map
InterPro DEAD/DEAH_box_helicase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DHX8/Prp22_DEXHc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DHX8_GH2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA/RNA_helicase_DEAH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1605 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HA2_WH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase-assoc_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S1_DHX8_helicase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S1_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1659 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1659 ENTREZGENE
OMIM 600396 OMIM
PANTHER ATP-DEPENDENT RNA HELICASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-DEPENDENT RNA HELICASE DHX8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HA2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HA2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OB_NTP_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00575 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27231 PharmGKB
PROSITE DEAH_ATP_HELICASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50126 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HA2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00316 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z8F4 ENTREZGENE, UniProtKB/TrEMBL
  DHX8_HUMAN UniProtKB/Swiss-Prot
  F5H658 ENTREZGENE, UniProtKB/TrEMBL
  K7EJH9_HUMAN UniProtKB/TrEMBL
  K7END7 ENTREZGENE, UniProtKB/TrEMBL
  K7EQH7_HUMAN UniProtKB/TrEMBL
  Q05CV4_HUMAN UniProtKB/TrEMBL
  Q14562 ENTREZGENE
  Q86X36_HUMAN UniProtKB/TrEMBL
  Q86YB2 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 DHX8  DEAH-box helicase 8  DHX8  DEAH (Asp-Glu-Ala-His) box polypeptide 8  Symbol and/or name change 5135510 APPROVED