DHX16 (DEAH-box helicase 16) - Rat Genome Database

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Gene: DHX16 (DEAH-box helicase 16) Homo sapiens
Analyze
Symbol: DHX16
Name: DEAH-box helicase 16
RGD ID: 1344132
HGNC Page HGNC:2739
Description: Enables molecular adaptor activity; pattern recognition receptor activity; and ubiquitin binding activity. Involved in antiviral innate immune response and mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type precatalytic spliceosome. Is active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-dependent RNA helicase #3; DBP2; DDX16; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16; DEAD/H box 16; DEAH (Asp-Glu-Ala-His) box polypeptide 16; DEAH-box protein 16; NMOAS; pre-mRNA processing factor 2; pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16; PRO2014; Prp2; PRP8; PRPF2; putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16; RNA helicase
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
GRCh38630,653,127 - 30,673,006 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl630,653,119 - 30,673,006 (-)EnsemblGRCh38hg38GRCh38
GRCh37630,620,904 - 30,640,783 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36630,728,886 - 30,748,736 (-)NCBINCBI36Build 36hg18NCBI36
Build 34630,728,885 - 30,748,736NCBI
Celera632,219,005 - 32,238,967 (-)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef630,420,829 - 30,440,797 (-)NCBIHuRef
CHM1_1630,623,004 - 30,642,940 (-)NCBICHM1_1
T2T-CHM13v2.0630,517,301 - 30,537,211 (-)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
cytoplasm  (IDA,IEA)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IDA,IEA,TAS)
spliceosomal complex  (IDA,IEA)
U2-type precatalytic spliceosome  (IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype 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. Cloning and characterization of a human DEAH-box RNA helicase, a functional homolog of fission yeast Cdc28/Prp8. Imamura O, etal., Nucleic Acids Res 1998 May 1;26(9):2063-8.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2479028   PMID:9628581   PMID:12421765   PMID:12477932   PMID:15302935   PMID:15489334   PMID:16159877   PMID:16344560   PMID:16702430   PMID:16713569   PMID:17081983   PMID:18029348  
PMID:19851445   PMID:20360068   PMID:20423332   PMID:20453000   PMID:20508642   PMID:20841358   PMID:21832049   PMID:21873635   PMID:22113938   PMID:22365833   PMID:22586326   PMID:22658674  
PMID:22681889   PMID:22939629   PMID:22944692   PMID:24711643   PMID:25036637   PMID:25296192   PMID:25609649   PMID:25693804   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610  
PMID:26673895   PMID:28065597   PMID:28077445   PMID:28186131   PMID:28514442   PMID:28695742   PMID:28986522   PMID:29117863   PMID:29360106   PMID:29395067   PMID:29467282   PMID:29568061  
PMID:29955894   PMID:30021884   PMID:30463901   PMID:30585729   PMID:30890647   PMID:30940648   PMID:30948266   PMID:31091453   PMID:31239290   PMID:31256877   PMID:31300519   PMID:31363146  
PMID:31586073   PMID:31636387   PMID:31839598   PMID:31871319   PMID:32296183   PMID:32416067   PMID:32572027   PMID:32807901   PMID:33111431   PMID:33545068   PMID:33658012   PMID:33742100  
PMID:33961781   PMID:34079125   PMID:34133714   PMID:34316702   PMID:34373451   PMID:34597346   PMID:34711951   PMID:35263596   PMID:35271311   PMID:35509820   PMID:35831314   PMID:35944360  
PMID:36057605   PMID:36089195   PMID:36215168   PMID:36244648   PMID:36526897   PMID:36538041   PMID:37059091   PMID:37071682   PMID:37105989   PMID:37574199   PMID:37689310   PMID:37723588  
PMID:37827155   PMID:38113892   PMID:38697112   PMID:38777146   PMID:39251607   PMID:39358380  


Genomics

Comparative Map Data
DHX16
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38630,653,127 - 30,673,006 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl630,653,119 - 30,673,006 (-)EnsemblGRCh38hg38GRCh38
GRCh37630,620,904 - 30,640,783 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36630,728,886 - 30,748,736 (-)NCBINCBI36Build 36hg18NCBI36
Build 34630,728,885 - 30,748,736NCBI
Celera632,219,005 - 32,238,967 (-)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef630,420,829 - 30,440,797 (-)NCBIHuRef
CHM1_1630,623,004 - 30,642,940 (-)NCBICHM1_1
T2T-CHM13v2.0630,517,301 - 30,537,211 (-)NCBIT2T-CHM13v2.0
Dhx16
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391736,190,657 - 36,203,562 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1736,190,711 - 36,203,562 (+)EnsemblGRCm39 Ensembl
GRCm381735,879,764 - 35,892,670 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1735,879,819 - 35,892,670 (+)EnsemblGRCm38mm10GRCm38
MGSCv371736,016,723 - 36,029,615 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361735,487,872 - 35,500,723 (+)NCBIMGSCv36mm8
Celera1739,389,023 - 39,401,921 (+)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1718.74NCBI
Dhx16
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8202,866,804 - 2,879,790 (-)NCBIGRCr8
mRatBN7.2202,862,000 - 2,874,991 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl202,862,000 - 2,874,948 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx202,913,756 - 2,926,712 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0202,918,726 - 2,931,683 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0202,944,897 - 2,957,846 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0203,368,971 - 3,386,087 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl203,367,150 - 3,386,106 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0205,466,494 - 5,483,222 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4203,009,770 - 3,022,969 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1203,009,977 - 3,023,169 (-)NCBI
Celera20288,017 - 301,014 (-)NCBICelera
Cytogenetic Map20p12NCBI
Dhx16
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955583654,921 - 668,392 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955583657,425 - 668,390 (-)NCBIChiLan1.0ChiLan1.0
DHX16
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2545,213,250 - 45,233,242 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1641,176,428 - 41,196,443 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0630,397,774 - 30,417,758 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1631,267,669 - 31,287,435 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl631,267,669 - 31,287,435 (-)Ensemblpanpan1.1panPan2
DHX16
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.112460,669 - 478,026 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl12460,713 - 478,001 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha12598,314 - 615,337 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.012603,895 - 621,190 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl12603,895 - 621,168 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.112461,568 - 478,541 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.012531,020 - 548,054 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.012599,625 - 616,622 (-)NCBIUU_Cfam_GSD_1.0
Dhx16
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494633,959,004 - 33,976,386 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936837324,243 - 341,713 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936837324,244 - 341,667 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DHX16
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl723,190,656 - 23,208,087 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1723,190,645 - 23,208,071 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2726,912,272 - 26,930,002 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DHX16
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11741,780,965 - 41,801,310 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1741,780,987 - 41,801,219 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604430,349,931 - 30,370,334 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dhx16
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475425,040,711 - 25,057,856 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475425,040,684 - 25,054,632 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DHX16
126 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] Chr6:18120520..30767516 [GRCh38]
Chr6:18120751..30735293 [GRCh37]
Chr6:18228730..30843272 [NCBI36]
Chr6:6p22.3-21.33		 pathogenic
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_003587.5(DHX16):c.841C>T (p.Arg281Trp) single nucleotide variant Inborn genetic diseases [RCV003261895] Chr6:30665559 [GRCh38]
Chr6:30633336 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2252C>T (p.Thr751Ile) single nucleotide variant Inborn genetic diseases [RCV003256199] Chr6:30656656 [GRCh38]
Chr6:30624433 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.884C>T (p.Thr295Ile) single nucleotide variant Inborn genetic diseases [RCV003276487] Chr6:30665516 [GRCh38]
Chr6:30633293 [GRCh37]
Chr6:6p21.33		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 copy number gain not provided [RCV000745592] Chr6:28130359..32108367 [GRCh37]
Chr6:6p22.1-21.32		 uncertain significance
NM_003587.5(DHX16):c.2091G>T (p.Gln697His) single nucleotide variant Enlarged kidney [RCV000853103]|Neurodevelopmental disorders [RCV001261675]|Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV000991226] Chr6:30657009 [GRCh38]
Chr6:30624786 [GRCh37]
Chr6:6p21.33		 pathogenic|likely pathogenic
NM_003587.5(DHX16):c.2021C>T (p.Thr674Met) single nucleotide variant Neurodevelopmental disorders [RCV001261677]|Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV000991228]|Seizure [RCV000853105]|not provided [RCV003322832] Chr6:30657079 [GRCh38]
Chr6:30624856 [GRCh37]
Chr6:6p21.33		 pathogenic|likely pathogenic
NM_003587.5(DHX16):c.2886G>C (p.Val962=) single nucleotide variant DHX16-related disorder [RCV003930603]|not provided [RCV000883688] Chr6:30654817 [GRCh38]
Chr6:30622594 [GRCh37]
Chr6:6p21.33		 benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
NM_003587.5(DHX16):c.365G>A (p.Arg122His) single nucleotide variant DHX16-related disorder [RCV003922898]|not provided [RCV000897843] Chr6:30671117 [GRCh38]
Chr6:30638894 [GRCh37]
Chr6:6p21.33		 likely benign
NM_003587.5(DHX16):c.428A>T (p.Lys143Ile) single nucleotide variant DHX16-related disorder [RCV003903209]|not provided [RCV000950702] Chr6:30671054 [GRCh38]
Chr6:30638831 [GRCh37]
Chr6:6p21.33		 benign
NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile) single nucleotide variant Corpus callosum, agenesis of [RCV000853102]|Neurodevelopmental disorders [RCV001261674]|Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV000991225] Chr6:30660043 [GRCh38]
Chr6:30627820 [GRCh37]
Chr6:6p21.33		 pathogenic|likely pathogenic
NM_003587.5(DHX16):c.977A>G (p.Gln326Arg) single nucleotide variant Inborn genetic diseases [RCV003268813] Chr6:30665219 [GRCh38]
Chr6:30632996 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2614T>A (p.Phe872Ile) single nucleotide variant not provided [RCV004776626] Chr6:30655482 [GRCh38]
Chr6:30623259 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.262C>T (p.Arg88Trp) single nucleotide variant Inborn genetic diseases [RCV003242252] Chr6:30671220 [GRCh38]
Chr6:30638997 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1054A>G (p.Lys352Glu) single nucleotide variant DHX16-related disorder [RCV003926164]|not provided [RCV000961707] Chr6:30665142 [GRCh38]
Chr6:30632919 [GRCh37]
Chr6:6p21.33		 benign
NM_003587.5(DHX16):c.1280G>A (p.Gly427Glu) single nucleotide variant Intellectual disability [RCV000853104]|Neurodevelopmental disorders [RCV001261676]|Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV000991227] Chr6:30664838 [GRCh38]
Chr6:30632615 [GRCh37]
Chr6:6p21.33		 pathogenic|likely pathogenic
NC_000006.11:g.28005012_31683185del deletion Megacolon [RCV001290055] Chr6:28005012..31683185 [GRCh37]
Chr6:6p22.1-21.33		 likely pathogenic
NM_003587.5(DHX16):c.1661C>T (p.Thr554Ile) single nucleotide variant Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV004797724] Chr6:30660126 [GRCh38]
Chr6:30627903 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1110_1111delinsAT (p.Leu371Phe) indel not specified [RCV004799935] Chr6:30665085..30665086 [GRCh38]
Chr6:30632862..30632863 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1117G>C (p.Gly373Arg) single nucleotide variant not provided [RCV004778535] Chr6:30665079 [GRCh38]
Chr6:30632856 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.224T>G (p.Val75Gly) single nucleotide variant not specified [RCV004782130] Chr6:30671258 [GRCh38]
Chr6:30639035 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2033A>G (p.Glu678Gly) single nucleotide variant Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV003156152] Chr6:30657067 [GRCh38]
Chr6:30624844 [GRCh37]
Chr6:6p21.33		 likely pathogenic
NM_003587.5(DHX16):c.1558G>A (p.Asp520Asn) single nucleotide variant Neurodevelopmental delay [RCV002274334] Chr6:30660229 [GRCh38]
Chr6:30628006 [GRCh37]
Chr6:6p21.33		 likely pathogenic
NM_003587.5(DHX16):c.2566C>T (p.Arg856Ter) single nucleotide variant Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV002266721] Chr6:30655530 [GRCh38]
Chr6:30623307 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.468_469del (p.Lys157fs) microsatellite Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV002472294] Chr6:30670930..30670931 [GRCh38]
Chr6:30638707..30638708 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1723C>T (p.Arg575Cys) single nucleotide variant Inborn genetic diseases [RCV002864397] Chr6:30660064 [GRCh38]
Chr6:30627841 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.305A>G (p.Asp102Gly) single nucleotide variant Inborn genetic diseases [RCV002689644] Chr6:30671177 [GRCh38]
Chr6:30638954 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2818C>T (p.Arg940Cys) single nucleotide variant Inborn genetic diseases [RCV002976899]|Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV003143560] Chr6:30655180 [GRCh38]
Chr6:30622957 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2867G>A (p.Arg956Gln) single nucleotide variant Inborn genetic diseases [RCV002704186]|Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV003143571] Chr6:30654836 [GRCh38]
Chr6:30622613 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1918C>T (p.Arg640Trp) single nucleotide variant Inborn genetic diseases [RCV002849049] Chr6:30659561 [GRCh38]
Chr6:30627338 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1972C>T (p.Arg658Cys) single nucleotide variant Inborn genetic diseases [RCV002691636] Chr6:30659507 [GRCh38]
Chr6:30627284 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2065G>A (p.Val689Met) single nucleotide variant Inborn genetic diseases [RCV002925751] Chr6:30657035 [GRCh38]
Chr6:30624812 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2998G>A (p.Val1000Ile) single nucleotide variant Inborn genetic diseases [RCV002821330] Chr6:30653370 [GRCh38]
Chr6:30621147 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2126T>C (p.Leu709Pro) single nucleotide variant Inborn genetic diseases [RCV002887146] Chr6:30656974 [GRCh38]
Chr6:30624751 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2518A>T (p.Ile840Phe) single nucleotide variant Inborn genetic diseases [RCV002869421] Chr6:30655578 [GRCh38]
Chr6:30623355 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1867G>A (p.Ala623Thr) single nucleotide variant Inborn genetic diseases [RCV002854074] Chr6:30659612 [GRCh38]
Chr6:30627389 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.631C>T (p.Arg211Cys) single nucleotide variant Inborn genetic diseases [RCV002987668] Chr6:30670445 [GRCh38]
Chr6:30638222 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.982C>T (p.Arg328Cys) single nucleotide variant Inborn genetic diseases [RCV002984118] Chr6:30665214 [GRCh38]
Chr6:30632991 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1675C>A (p.Arg559Ser) single nucleotide variant Inborn genetic diseases [RCV002959506] Chr6:30660112 [GRCh38]
Chr6:30627889 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.791G>A (p.Arg264Gln) single nucleotide variant Inborn genetic diseases [RCV002988039] Chr6:30665609 [GRCh38]
Chr6:30633386 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.364C>T (p.Arg122Cys) single nucleotide variant Inborn genetic diseases [RCV003279752] Chr6:30671118 [GRCh38]
Chr6:30638895 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2743C>T (p.Arg915Trp) single nucleotide variant Inborn genetic diseases [RCV003197091] Chr6:30655255 [GRCh38]
Chr6:30623032 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1111C>T (p.Leu371Phe) single nucleotide variant Inborn genetic diseases [RCV003179886] Chr6:30665085 [GRCh38]
Chr6:30632862 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.22G>C (p.Glu8Gln) single nucleotide variant Inborn genetic diseases [RCV003191453] Chr6:30672820 [GRCh38]
Chr6:30640597 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2429C>T (p.Thr810Met) single nucleotide variant Inborn genetic diseases [RCV003184332] Chr6:30656392 [GRCh38]
Chr6:30624169 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1126-3T>C single nucleotide variant Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV003146065] Chr6:30664995 [GRCh38]
Chr6:30632772 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2789G>A (p.Ser930Asn) single nucleotide variant Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV003146066] Chr6:30655209 [GRCh38]
Chr6:30622986 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1189C>T (p.Arg397Cys) single nucleotide variant Inborn genetic diseases [RCV003183713] Chr6:30664929 [GRCh38]
Chr6:30632706 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.447-1G>A single nucleotide variant Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV003146067] Chr6:30670953 [GRCh38]
Chr6:30638730 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2047A>G (p.Ile683Val) single nucleotide variant Inborn genetic diseases [RCV003201119] Chr6:30657053 [GRCh38]
Chr6:30624830 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1138C>T (p.Pro380Ser) single nucleotide variant Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV003146063] Chr6:30664980 [GRCh38]
Chr6:30632757 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.818A>C (p.Lys273Thr) single nucleotide variant Inborn genetic diseases [RCV003208871] Chr6:30665582 [GRCh38]
Chr6:30633359 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2096G>A (p.Ser699Asn) single nucleotide variant Inborn genetic diseases [RCV003210630] Chr6:30657004 [GRCh38]
Chr6:30624781 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.646G>A (p.Glu216Lys) single nucleotide variant Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV003340963] Chr6:30670430 [GRCh38]
Chr6:30638207 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.568A>G (p.Lys190Glu) single nucleotide variant not provided [RCV003387652] Chr6:30670831 [GRCh38]
Chr6:30638608 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.454A>G (p.Lys152Glu) single nucleotide variant Inborn genetic diseases [RCV003368562] Chr6:30670945 [GRCh38]
Chr6:30638722 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.617A>C (p.Glu206Ala) single nucleotide variant Inborn genetic diseases [RCV003353790] Chr6:30670459 [GRCh38]
Chr6:30638236 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1609A>G (p.Lys537Glu) single nucleotide variant Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV003441159] Chr6:30660178 [GRCh38]
Chr6:30627955 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.996G>A (p.Ala332=) single nucleotide variant DHX16-related disorder [RCV003929150]|not provided [RCV003428778] Chr6:30665200 [GRCh38]
Chr6:30632977 [GRCh37]
Chr6:6p21.33		 likely benign
NM_003587.5(DHX16):c.2018C>T (p.Ala673Val) single nucleotide variant not provided [RCV003431711] Chr6:30657082 [GRCh38]
Chr6:30624859 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1642del (p.Val548fs) deletion DHX16-related disorder [RCV003410899] Chr6:30660145 [GRCh38]
Chr6:30627922 [GRCh37]
Chr6:6p21.33		 uncertain significance
GRCh37/hg19 6p21.33(chr6:30629521-30962674)x3 copy number gain not specified [RCV003986666] Chr6:30629521..30962674 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1544+819A>G single nucleotide variant DHX16-related disorder [RCV003939750] Chr6:30661808 [GRCh38]
Chr6:30629585 [GRCh37]
Chr6:6p21.33		 likely benign
NM_003587.5(DHX16):c.916G>A (p.Gly306Arg) single nucleotide variant DHX16-related disorder [RCV003941562] Chr6:30665484 [GRCh38]
Chr6:30633261 [GRCh37]
Chr6:6p21.33		 benign
NM_003587.5(DHX16):c.1535C>G (p.Ala512Gly) single nucleotide variant Inborn genetic diseases [RCV004373489] Chr6:30662636 [GRCh38]
Chr6:30630413 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1190G>A (p.Arg397His) single nucleotide variant Inborn genetic diseases [RCV004373488] Chr6:30664928 [GRCh38]
Chr6:30632705 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2209C>A (p.Leu737Met) single nucleotide variant Inborn genetic diseases [RCV004373493] Chr6:30656699 [GRCh38]
Chr6:30624476 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2602C>T (p.Arg868Cys) single nucleotide variant Inborn genetic diseases [RCV004373494] Chr6:30655494 [GRCh38]
Chr6:30623271 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.790C>T (p.Arg264Trp) single nucleotide variant Inborn genetic diseases [RCV004373497] Chr6:30665610 [GRCh38]
Chr6:30633387 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1131G>A (p.Pro377=) single nucleotide variant DHX16-related disorder [RCV003952031] Chr6:30664987 [GRCh38]
Chr6:30632764 [GRCh37]
Chr6:6p21.33		 likely benign
NM_003587.5(DHX16):c.1072G>C (p.Glu358Gln) single nucleotide variant Inborn genetic diseases [RCV004373486] Chr6:30665124 [GRCh38]
Chr6:30632901 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2984A>G (p.Glu995Gly) single nucleotide variant Inborn genetic diseases [RCV004373496] Chr6:30654719 [GRCh38]
Chr6:30622496 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.207+8C>G single nucleotide variant DHX16-related disorder [RCV003947408]|not provided [RCV004546839] Chr6:30672627 [GRCh38]
Chr6:30640404 [GRCh37]
Chr6:6p21.33		 likely benign
NM_003587.5(DHX16):c.851G>A (p.Arg284Gln) single nucleotide variant Inborn genetic diseases [RCV004373499] Chr6:30665549 [GRCh38]
Chr6:30633326 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.719G>A (p.Arg240Gln) single nucleotide variant not specified [RCV004526302] Chr6:30665681 [GRCh38]
Chr6:30633458 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2827A>G (p.Ile943Val) single nucleotide variant Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV003990203] Chr6:30654876 [GRCh38]
Chr6:30622653 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1093T>G (p.Phe365Val) single nucleotide variant Inborn genetic diseases [RCV004373487] Chr6:30665103 [GRCh38]
Chr6:30632880 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1697A>G (p.Asp566Gly) single nucleotide variant DHX16-related disorder [RCV003976508] Chr6:30660090 [GRCh38]
Chr6:30627867 [GRCh37]
Chr6:6p21.33		 benign
NM_003587.5(DHX16):c.2008G>T (p.Val670Leu) single nucleotide variant Inborn genetic diseases [RCV004373491] Chr6:30657092 [GRCh38]
Chr6:30624869 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2706T>C (p.Phe902=) single nucleotide variant DHX16-related disorder [RCV003978994] Chr6:30655292 [GRCh38]
Chr6:30623069 [GRCh37]
Chr6:6p21.33		 benign
NM_003587.5(DHX16):c.1422G>A (p.Gly474=) single nucleotide variant DHX16-related disorder [RCV003909518] Chr6:30662917 [GRCh38]
Chr6:30630694 [GRCh37]
Chr6:6p21.33		 likely benign
NM_003587.5(DHX16):c.2357A>G (p.Tyr786Cys) single nucleotide variant DHX16-related disorder [RCV003964420] Chr6:30656464 [GRCh38]
Chr6:30624241 [GRCh37]
Chr6:6p21.33		 benign
NM_003587.5(DHX16):c.-120C>T single nucleotide variant DHX16-related disorder [RCV003917405] Chr6:30672961 [GRCh38]
Chr6:30640738 [GRCh37]
Chr6:6p21.33		 benign
NM_003587.5(DHX16):c.141A>G (p.Leu47=) single nucleotide variant DHX16-related disorder [RCV003904786] Chr6:30672701 [GRCh38]
Chr6:30640478 [GRCh37]
Chr6:6p21.33		 benign
NM_003587.5(DHX16):c.2149-4C>A single nucleotide variant DHX16-related disorder [RCV003934505] Chr6:30656763 [GRCh38]
Chr6:30624540 [GRCh37]
Chr6:6p21.33		 likely benign
NM_003587.5(DHX16):c.1240A>G (p.Asn414Asp) single nucleotide variant DHX16-related disorder [RCV003914108] Chr6:30664878 [GRCh38]
Chr6:30632655 [GRCh37]
Chr6:6p21.33		 benign
NM_003587.5(DHX16):c.1742TCT[1] (p.Phe582del) microsatellite Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV003990826] Chr6:30660040..30660042 [GRCh38]
Chr6:30627817..30627819 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.447-6C>A single nucleotide variant DHX16-related disorder [RCV003957327] Chr6:30670958 [GRCh38]
Chr6:30638735 [GRCh37]
Chr6:6p21.33		 likely benign
NM_003587.5(DHX16):c.2108G>A (p.Arg703His) single nucleotide variant Inborn genetic diseases [RCV004373492] Chr6:30656992 [GRCh38]
Chr6:30624769 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2603G>A (p.Arg868His) single nucleotide variant Inborn genetic diseases [RCV004373495] Chr6:30655493 [GRCh38]
Chr6:30623270 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.719G>T (p.Arg240Leu) single nucleotide variant Inborn genetic diseases [RCV004614171] Chr6:30665681 [GRCh38]
Chr6:30633458 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2347C>G (p.Pro783Ala) single nucleotide variant Inborn genetic diseases [RCV004614168] Chr6:30656474 [GRCh38]
Chr6:30624251 [GRCh37]
Chr6:6p21.33		 likely benign
NM_003587.5(DHX16):c.718C>T (p.Arg240Ter) single nucleotide variant not provided [RCV004697525] Chr6:30665682 [GRCh38]
Chr6:30633459 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.39C>A (p.Asp13Glu) single nucleotide variant Inborn genetic diseases [RCV004614169] Chr6:30672803 [GRCh38]
Chr6:30640580 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.374G>A (p.Arg125Gln) single nucleotide variant Inborn genetic diseases [RCV004614167] Chr6:30671108 [GRCh38]
Chr6:30638885 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1900C>T (p.Arg634Cys) single nucleotide variant Inborn genetic diseases [RCV004614170] Chr6:30659579 [GRCh38]
Chr6:30627356 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.447-2A>C single nucleotide variant not provided [RCV004779678] Chr6:30670954 [GRCh38]
Chr6:30638731 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1618G>A (p.Ala540Thr) single nucleotide variant not provided [RCV004779821] Chr6:30660169 [GRCh38]
Chr6:30627946 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1216G>A (p.Glu406Lys) single nucleotide variant DHX16-related disorder [RCV004757044] Chr6:30664902 [GRCh38]
Chr6:30632679 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2303A>G (p.Lys768Arg) single nucleotide variant not provided [RCV004770522] Chr6:30656605 [GRCh38]
Chr6:30624382 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1064T>G (p.Leu355Arg) single nucleotide variant not provided [RCV004768046] Chr6:30665132 [GRCh38]
Chr6:30632909 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.539C>A (p.Ala180Asp) single nucleotide variant not provided [RCV004780989] Chr6:30670860 [GRCh38]
Chr6:30638637 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1361G>A (p.Arg454Gln) single nucleotide variant not provided [RCV004781442] Chr6:30662978 [GRCh38]
Chr6:30630755 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1855-3C>A single nucleotide variant not specified [RCV004702712] Chr6:30659627 [GRCh38]
Chr6:30627404 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1990C>T (p.Pro664Ser) single nucleotide variant Neuromuscular disease and ocular or auditory anomalies with or without seizures [RCV004785913] Chr6:30659489 [GRCh38]
Chr6:30627266 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1706T>A (p.Val569Glu) single nucleotide variant not provided [RCV004778469] Chr6:30660081 [GRCh38]
Chr6:30627858 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.203dup (p.Asn68fs) duplication not provided [RCV004801831] Chr6:30672638..30672639 [GRCh38]
Chr6:30640415..30640416 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.781G>A (p.Glu261Lys) single nucleotide variant not provided [RCV004771029] Chr6:30665619 [GRCh38]
Chr6:30633396 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2248A>G (p.Thr750Ala) single nucleotide variant not provided [RCV004761026]   uncertain significance
NM_003587.5(DHX16):c.5C>A (p.Ala2Glu) single nucleotide variant not provided [RCV005052787] Chr6:30672837 [GRCh38]
Chr6:30640614 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1622G>A (p.Arg541His) single nucleotide variant Inborn genetic diseases [RCV004976817] Chr6:30660165 [GRCh38]
Chr6:30627942 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1078G>C (p.Glu360Gln) single nucleotide variant Inborn genetic diseases [RCV004976824] Chr6:30665118 [GRCh38]
Chr6:30632895 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.75C>A (p.His25Gln) single nucleotide variant Inborn genetic diseases [RCV004976826] Chr6:30672767 [GRCh38]
Chr6:30640544 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.361A>G (p.Lys121Glu) single nucleotide variant Inborn genetic diseases [RCV004976827] Chr6:30671121 [GRCh38]
Chr6:30638898 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.173C>T (p.Pro58Leu) single nucleotide variant Inborn genetic diseases [RCV004976829] Chr6:30672669 [GRCh38]
Chr6:30640446 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1706T>G (p.Val569Gly) single nucleotide variant not provided [RCV004823598] Chr6:30660081 [GRCh38]
Chr6:30627858 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1810G>A (p.Val604Met) single nucleotide variant not provided [RCV005004530] Chr6:30659780 [GRCh38]
Chr6:30627557 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1539T>G (p.Ser513Arg) single nucleotide variant not provided [RCV004823791] Chr6:30662632 [GRCh38]
Chr6:30630409 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.215G>A (p.Arg72Gln) single nucleotide variant Inborn genetic diseases [RCV004976820] Chr6:30671267 [GRCh38]
Chr6:30639044 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2717G>C (p.Arg906Thr) single nucleotide variant Inborn genetic diseases [RCV004976819] Chr6:30655281 [GRCh38]
Chr6:30623058 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1450G>C (p.Glu484Gln) single nucleotide variant not provided [RCV005004633] Chr6:30662721 [GRCh38]
Chr6:30630498 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.596G>C (p.Arg199Pro) single nucleotide variant Inborn genetic diseases [RCV004976823] Chr6:30670803 [GRCh38]
Chr6:30638580 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.2434G>A (p.Gly812Ser) single nucleotide variant not provided [RCV004820512] Chr6:30656262 [GRCh38]
Chr6:30624039 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.656G>A (p.Arg219Gln) single nucleotide variant Inborn genetic diseases [RCV004976818] Chr6:30670420 [GRCh38]
Chr6:30638197 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1739A>G (p.Asp580Gly) single nucleotide variant Inborn genetic diseases [RCV004976821] Chr6:30660048 [GRCh38]
Chr6:30627825 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.314A>G (p.Glu105Gly) single nucleotide variant Inborn genetic diseases [RCV004976822] Chr6:30671168 [GRCh38]
Chr6:30638945 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1160A>G (p.Gln387Arg) single nucleotide variant Inborn genetic diseases [RCV004976825] Chr6:30664958 [GRCh38]
Chr6:30632735 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.377A>C (p.Lys126Thr) single nucleotide variant Inborn genetic diseases [RCV004976828] Chr6:30671105 [GRCh38]
Chr6:30638882 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1694A>G (p.Asp565Gly) single nucleotide variant Inborn genetic diseases [RCV004976830] Chr6:30660093 [GRCh38]
Chr6:30627870 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_003587.5(DHX16):c.1583A>G (p.His528Arg) single nucleotide variant not provided [RCV005227195] Chr6:30660204 [GRCh38]
Chr6:30627981 [GRCh37]
Chr6:6p21.33		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:654
Count of miRNA genes:453
Interacting mature miRNAs:502
Transcripts:ENST00000376437, ENST00000376442, ENST00000415603, ENST00000480966
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597424602GWAS1520676_HBMI-adjusted waist-hip ratio QTL GWAS1520676 (human)2e-08body size trait (VT:0100005)63066047530660476Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
406988681GWAS637657_Heosinophil count QTL GWAS637657 (human)2e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63066609830666099Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
597254871GWAS1350945_Hlactobacillus phage virus seropositivity QTL GWAS1350945 (human)5e-10lactobacillus phage virus seropositivity63067163530671636Human
597240552GWAS1336626_Hretinal vasculature measurement QTL GWAS1336626 (human)0.000006retina blood vessel morphology trait (VT:0002792)63066581530665816Human
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
597247276GWAS1343350_HBMI-adjusted waist-hip ratio QTL GWAS1343350 (human)4e-08body size trait (VT:0100005)63065943930659440Human
597453637GWAS1549711_Hstaphylococcus seropositivity QTL GWAS1549711 (human)9e-12staphylococcus seropositivity63066030530660306Human
597066541GWAS1162615_Hsusceptibility to shingles measurement QTL GWAS1162615 (human)2e-11susceptibility to shingles measurement63066118030661181Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human

Markers in Region
D6S1533E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,620,983 - 30,621,047UniSTSGRCh37
Build 36630,728,962 - 30,729,026RGDNCBI36
Celera632,219,092 - 32,219,156RGD
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef630,420,916 - 30,420,980UniSTS
STS-N98554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,620,979 - 30,621,136UniSTSGRCh37
Build 36630,728,958 - 30,729,115RGDNCBI36
Celera632,219,088 - 32,219,245RGD
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef630,420,912 - 30,421,069UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
NCBI RH Map6499.1UniSTS
MARC_3797-3798:991937626:7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,622,622 - 30,623,306UniSTSGRCh37
Build 36630,730,601 - 30,731,285RGDNCBI36
Celera632,220,762 - 32,221,446RGD
HuRef630,422,586 - 30,423,270UniSTS
MARC_4697-4698:996679616:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,623,301 - 30,624,013UniSTSGRCh37
Build 36630,731,280 - 30,731,992RGDNCBI36
Celera632,221,441 - 32,222,153RGD
HuRef630,423,265 - 30,423,977UniSTS
MARC_23735-23736:1032274434:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,622,587 - 30,623,340UniSTSGRCh37
Celera632,220,727 - 32,221,480UniSTS
HuRef630,422,551 - 30,423,304UniSTS


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 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001164239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB001601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB088098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB103604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB202095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF119860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL845353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BA000025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ772493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX119957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX908728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR753328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR759778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR759873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR788240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CU013522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB072495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000376437   ⟹   ENSP00000365620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl630,653,119 - 30,661,983 (-)Ensembl
Ensembl Acc Id: ENST00000376442   ⟹   ENSP00000365625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl630,653,127 - 30,673,006 (-)Ensembl
Ensembl Acc Id: ENST00000415603   ⟹   ENSP00000399101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl630,665,130 - 30,672,988 (-)Ensembl
Ensembl Acc Id: ENST00000480966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl630,659,473 - 30,660,577 (-)Ensembl
RefSeq Acc Id: NM_001164239   ⟹   NP_001157711
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,653,127 - 30,673,006 (-)NCBI
GRCh37630,620,896 - 30,640,830 (-)RGD
Celera632,219,005 - 32,238,967 (-)RGD
HuRef630,420,829 - 30,440,797 (-)RGD
CHM1_1630,623,004 - 30,642,940 (-)NCBI
T2T-CHM13v2.0630,517,301 - 30,537,211 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363515   ⟹   NP_001350444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,653,127 - 30,673,006 (-)NCBI
T2T-CHM13v2.0630,517,301 - 30,537,211 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003587   ⟹   NP_003578
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,653,127 - 30,673,006 (-)NCBI
GRCh37630,620,896 - 30,640,830 (-)RGD
Build 36630,728,886 - 30,748,736 (-)NCBI Archive
Celera632,219,005 - 32,238,967 (-)RGD
HuRef630,420,829 - 30,440,797 (-)RGD
CHM1_1630,623,004 - 30,642,940 (-)NCBI
T2T-CHM13v2.0630,517,301 - 30,537,211 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514938   ⟹   XP_011513240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,653,127 - 30,666,813 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514939   ⟹   XP_011513241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,653,127 - 30,667,327 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514941   ⟹   XP_011513243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,653,127 - 30,660,617 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054356549   ⟹   XP_054212524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0630,517,301 - 30,531,532 (-)NCBI
RefSeq Acc Id: XM_054356550   ⟹   XP_054212525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0630,517,301 - 30,531,388 (-)NCBI
RefSeq Acc Id: XM_054356551   ⟹   XP_054212526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0630,517,301 - 30,524,822 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001157711 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350444 (Get FASTA)   NCBI Sequence Viewer  
  NP_003578 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513240 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513241 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513243 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185898 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185899 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185900 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186391 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186392 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186393 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186664 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186665 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186666 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186884 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186885 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186886 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187163 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187164 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187165 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187405 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187406 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187407 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212524 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212525 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212526 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF69614 (Get FASTA)   NCBI Sequence Viewer  
  AAH02789 (Get FASTA)   NCBI Sequence Viewer  
  AAH08825 (Get FASTA)   NCBI Sequence Viewer  
  AAH09392 (Get FASTA)   NCBI Sequence Viewer  
  AQY76785 (Get FASTA)   NCBI Sequence Viewer  
  AQY76786 (Get FASTA)   NCBI Sequence Viewer  
  BAA25908 (Get FASTA)   NCBI Sequence Viewer  
  BAB63323 (Get FASTA)   NCBI Sequence Viewer  
  BAC54930 (Get FASTA)   NCBI Sequence Viewer  
  BAE78615 (Get FASTA)   NCBI Sequence Viewer  
  BAF31265 (Get FASTA)   NCBI Sequence Viewer  
  BAG35195 (Get FASTA)   NCBI Sequence Viewer  
  BAG63940 (Get FASTA)   NCBI Sequence Viewer  
  EAX03312 (Get FASTA)   NCBI Sequence Viewer  
  EAX03313 (Get FASTA)   NCBI Sequence Viewer  
  EAX03314 (Get FASTA)   NCBI Sequence Viewer  
  EAX03315 (Get FASTA)   NCBI Sequence Viewer  
  EAX03316 (Get FASTA)   NCBI Sequence Viewer  
  EAX03317 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000365620
  ENSP00000365620.5
  ENSP00000365625
  ENSP00000365625.3
  ENSP00000373070.3
  ENSP00000373071.4
  ENSP00000389862.2
  ENSP00000390319.1
  ENSP00000390938.2
  ENSP00000391789.2
  ENSP00000393356.1
  ENSP00000393958.2
  ENSP00000396193.2
  ENSP00000399101.1
  ENSP00000403116.1
  ENSP00000405391.2
  ENSP00000406462.2
  ENSP00000408956.2
  ENSP00000409038.2
  ENSP00000409091.2
  ENSP00000409558.2
  ENSP00000409812.1
  ENSP00000411743.1
  ENSP00000412716.1
  ENSP00000413416.1
  ENSP00000414335.1
GenBank Protein O60231 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003578   ⟸   NM_003587
- Peptide Label: isoform 1
- UniProtKB: Q969X7 (UniProtKB/Swiss-Prot),   Q5JP45 (UniProtKB/Swiss-Prot),   O60322 (UniProtKB/Swiss-Prot),   Q96QC1 (UniProtKB/Swiss-Prot),   O60231 (UniProtKB/Swiss-Prot),   Q5SQH4 (UniProtKB/TrEMBL),   A0A1U9X7L6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001157711   ⟸   NM_001164239
- Peptide Label: isoform 2
- UniProtKB: A0A1U9X7L7 (UniProtKB/TrEMBL),   A0A1U9X7L6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513241   ⟸   XM_011514939
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011513240   ⟸   XM_011514938
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011513243   ⟸   XM_011514941
- Peptide Label: isoform X2
- UniProtKB: A0A140T8Y5 (UniProtKB/TrEMBL),   Q9P186 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350444   ⟸   NM_001363515
- Peptide Label: isoform 3
- UniProtKB: Q5SQH5 (UniProtKB/TrEMBL),   A0A140T8Y5 (UniProtKB/TrEMBL),   Q9P186 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000399101   ⟸   ENST00000415603
Ensembl Acc Id: ENSP00000365620   ⟸   ENST00000376437
Ensembl Acc Id: ENSP00000365625   ⟸   ENST00000376442
RefSeq Acc Id: XP_054212524   ⟸   XM_054356549
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212525   ⟸   XM_054356550
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212526   ⟸   XM_054356551
- Peptide Label: isoform X2
- UniProtKB: A0A140T8Y5 (UniProtKB/TrEMBL),   Q9P186 (UniProtKB/TrEMBL)
Protein Domains
Helicase ATP-binding   Helicase C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60231-F1-model_v2 AlphaFold O60231 1-1041 view protein structure

Promoters
RGD ID:6872408
Promoter ID:EPDNEW_H9369
Type:initiation region
Name:DHX16_1
Description:DEAH-box helicase 16
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
GRCh38630,672,996 - 30,673,056EPDNEW
RGD ID:6803929
Promoter ID:HG_KWN:52847
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001164239,   OTTHUMT00000076076,   OTTHUMT00000256719
Position:
Human AssemblyChrPosition (strand)Source
Build 36630,748,486 - 30,748,986 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2739 AgrOrtholog
COSMIC DHX16 COSMIC
Ensembl Genes ENSG00000204560 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000206486 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000226171 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000227222 UniProtKB/TrEMBL
  ENSG00000231377 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000233049 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000233418 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000233561 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000376437 ENTREZGENE
  ENST00000376437.9 UniProtKB/TrEMBL
  ENST00000376442 ENTREZGENE
  ENST00000376442.8 UniProtKB/Swiss-Prot
  ENST00000383576.7 UniProtKB/TrEMBL
  ENST00000383577.8 UniProtKB/Swiss-Prot
  ENST00000414052.6 UniProtKB/TrEMBL
  ENST00000415603.1 UniProtKB/TrEMBL
  ENST00000417308.6 UniProtKB/Swiss-Prot
  ENST00000421095.6 UniProtKB/Swiss-Prot
  ENST00000424672.6 UniProtKB/Swiss-Prot
  ENST00000427297.1 UniProtKB/TrEMBL
  ENST00000436662.1 UniProtKB/TrEMBL
  ENST00000445379.6 UniProtKB/TrEMBL
  ENST00000446074.1 UniProtKB/TrEMBL
  ENST00000447945.1 UniProtKB/TrEMBL
  ENST00000448766.1 UniProtKB/TrEMBL
  ENST00000449252.1 UniProtKB/TrEMBL
  ENST00000449861.6 UniProtKB/TrEMBL
  ENST00000450691.1 UniProtKB/TrEMBL
  ENST00000450902.6 UniProtKB/TrEMBL
  ENST00000451456.6 UniProtKB/Swiss-Prot
  ENST00000451748.6 UniProtKB/TrEMBL
  ENST00000453879.2 UniProtKB/TrEMBL
  ENST00000456005.5 UniProtKB/TrEMBL
  ENST00000458094.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.120.1080 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000204560 GTEx
  ENSG00000206486 GTEx
  ENSG00000226171 GTEx
  ENSG00000227222 GTEx
  ENSG00000231377 GTEx
  ENSG00000233049 GTEx
  ENSG00000233418 GTEx
  ENSG00000233561 GTEx
HGNC ID HGNC:2739 ENTREZGENE
Human Proteome Map DHX16 Human Proteome Map
InterPro DEAD/DEAH_box_helicase_dom 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
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8449 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8449 ENTREZGENE
OMIM 603405 OMIM
PANTHER ATP-DEPENDENT RNA HELICASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRE-MRNA-SPLICING FACTOR ATP-DEPENDENT RNA HELICASE DHX16 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
PharmGKB PA27205 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
RNAcentral URS0002617D6D RNACentral
  URS0002617F24 RNACentral
  URS00026181B1 RNACentral
  URS0002618654 RNACentral
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HA2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140T8Y5 ENTREZGENE, UniProtKB/TrEMBL
  A0A140T947_HUMAN UniProtKB/TrEMBL
  A0A140T9T4_HUMAN UniProtKB/TrEMBL
  A0A1U9X7L6 ENTREZGENE, UniProtKB/TrEMBL
  A0A1U9X7L7 ENTREZGENE, UniProtKB/TrEMBL
  A2AB15_HUMAN UniProtKB/TrEMBL
  B4DZ28_HUMAN UniProtKB/TrEMBL
  DHX16_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  O60322 ENTREZGENE
  Q5JP45 ENTREZGENE
  Q5SQH4 ENTREZGENE, UniProtKB/TrEMBL
  Q5SQH5 ENTREZGENE, UniProtKB/TrEMBL
  Q6PKC8_HUMAN UniProtKB/TrEMBL
  Q969X7 ENTREZGENE
  Q96QC1 ENTREZGENE
  Q9P186 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary O60322 UniProtKB/Swiss-Prot
  Q5JP45 UniProtKB/Swiss-Prot
  Q969X7 UniProtKB/Swiss-Prot
  Q96QC1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 DHX16  DEAH-box helicase 16    DEAH (Asp-Glu-Ala-His) box polypeptide 16  Symbol and/or name change 5135510 APPROVED