DOK4 (docking protein 4) - Rat Genome Database

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Gene: DOK4 (docking protein 4) Homo sapiens
Analyze
Symbol: DOK4
Name: docking protein 4
RGD ID: 1320786
HGNC Page HGNC:19868
Description: Predicted to be involved in Ras protein signal transduction; cell surface receptor protein tyrosine kinase signaling pathway; and positive regulation of MAPK cascade. Predicted to act upstream of or within nervous system development. Predicted to be located in cytosol. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: downstream of tyrosine kinase 4; FLJ10488; insulin receptor substrate 5; IRS-5; IRS5
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
GRCh381657,471,922 - 57,487,322 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1657,471,922 - 57,487,327 (-)EnsemblGRCh38hg38GRCh38
GRCh371657,505,834 - 57,521,234 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361656,063,374 - 56,077,828 (-)NCBINCBI36Build 36hg18NCBI36
Build 341656,063,374 - 56,077,828NCBI
Celera1642,006,722 - 42,021,228 (-)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1643,373,518 - 43,387,961 (-)NCBIHuRef
CHM1_11658,913,924 - 58,928,449 (-)NCBICHM1_1
T2T-CHM13v2.01663,267,111 - 63,282,532 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA)
cytosol  (TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10493829   PMID:11470823   PMID:12477932   PMID:12595900   PMID:12730241   PMID:14702039   PMID:15489334   PMID:16273093   PMID:16820412   PMID:17443497   PMID:19073520   PMID:19322201  
PMID:19494292   PMID:21873635   PMID:22982678   PMID:23824909   PMID:23840749   PMID:25814554   PMID:26186194   PMID:26598620   PMID:28275114   PMID:28514442   PMID:32296183   PMID:32386480  
PMID:33961781   PMID:35575683   PMID:35748872  


Genomics

Comparative Map Data
DOK4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381657,471,922 - 57,487,322 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1657,471,922 - 57,487,327 (-)EnsemblGRCh38hg38GRCh38
GRCh371657,505,834 - 57,521,234 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361656,063,374 - 56,077,828 (-)NCBINCBI36Build 36hg18NCBI36
Build 341656,063,374 - 56,077,828NCBI
Celera1642,006,722 - 42,021,228 (-)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1643,373,518 - 43,387,961 (-)NCBIHuRef
CHM1_11658,913,924 - 58,928,449 (-)NCBICHM1_1
T2T-CHM13v2.01663,267,111 - 63,282,532 (-)NCBIT2T-CHM13v2.0
Dok4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39895,590,456 - 95,602,940 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl895,590,456 - 95,602,958 (-)EnsemblGRCm39 Ensembl
GRCm38894,863,828 - 94,876,312 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl894,863,828 - 94,876,330 (-)EnsemblGRCm38mm10GRCm38
MGSCv37897,387,728 - 97,400,212 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36897,752,989 - 97,765,403 (-)NCBIMGSCv36mm8
Celera899,188,439 - 99,200,990 (-)NCBICelera
Cytogenetic Map8C5NCBI
cM Map846.93NCBI
Dok4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81910,152,511 - 10,163,182 (+)NCBIGRCr8
mRatBN7.21910,146,520 - 10,157,187 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1910,146,474 - 10,158,203 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1910,110,615 - 10,121,334 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01910,877,459 - 10,888,178 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01910,164,407 - 10,175,126 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01910,563,423 - 10,574,094 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1910,563,423 - 10,574,093 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01910,558,204 - 10,569,911 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41910,585,647 - 10,596,322 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11910,590,459 - 10,602,164 (+)NCBI
Celera1910,033,165 - 10,043,796 (+)NCBICelera
Cytogenetic Map19p13NCBI
Dok4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543315,104,394 - 15,116,271 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543315,104,387 - 15,116,118 (-)NCBIChiLan1.0ChiLan1.0
DOK4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21866,942,224 - 66,956,686 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11672,864,263 - 72,877,529 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01637,748,004 - 37,762,435 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11656,880,899 - 56,888,765 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1656,880,935 - 56,888,765 (-)Ensemblpanpan1.1panPan2
DOK4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1258,945,667 - 58,953,206 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl258,946,397 - 58,953,498 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha255,575,237 - 55,583,108 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0259,484,086 - 59,491,944 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl259,484,670 - 59,491,939 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1256,315,471 - 56,323,355 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0257,323,165 - 57,331,026 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0258,216,632 - 58,224,522 (+)NCBIUU_Cfam_GSD_1.0
Dok4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934950,052,787 - 50,060,739 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364759,528,347 - 9,535,683 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364759,528,342 - 9,535,683 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DOK4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl619,401,075 - 19,413,654 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1619,400,945 - 19,427,038 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2617,391,781 - 17,417,351 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DOK4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1543,403,893 - 43,418,062 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl543,401,576 - 43,412,287 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604732,801,020 - 32,815,160 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dok4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474628,593,901 - 28,604,276 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474628,590,997 - 28,603,872 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DOK4
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
NM_018110.3(DOK4):c.711C>T (p.Val237=) single nucleotide variant Malignant melanoma [RCV000063067] Chr16:57473928 [GRCh38]
Chr16:57507840 [GRCh37]
Chr16:56065341 [NCBI36]
Chr16:16q21		 not provided
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 copy number loss See cases [RCV000133738] Chr16:55457477..63841622 [GRCh38]
Chr16:55491389..63875526 [GRCh37]
Chr16:54048890..62433027 [NCBI36]
Chr16:16q12.2-21		 pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q21(chr16:57475008-57513598)x1 copy number loss See cases [RCV000448449] Chr16:57475008..57513598 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1 copy number loss not provided [RCV000683823] Chr16:56950941..60203590 [GRCh37]
Chr16:16q13-21		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q21(chr16:57499814-58032169)x3 copy number gain not provided [RCV000996429] Chr16:57499814..58032169 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.179C>T (p.Thr60Ile) single nucleotide variant not specified [RCV004324505] Chr16:57475616 [GRCh38]
Chr16:57509528 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.222G>T (p.Glu74Asp) single nucleotide variant not provided [RCV000965331] Chr16:57475573 [GRCh38]
Chr16:57509485 [GRCh37]
Chr16:16q21		 benign
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 copy number gain not provided [RCV000848548] Chr16:53455650..64006604 [GRCh37]
Chr16:16q12.2-21		 uncertain significance
NM_018110.5(DOK4):c.685G>T (p.Ala229Ser) single nucleotide variant not specified [RCV004297128] Chr16:57473954 [GRCh38]
Chr16:57507866 [GRCh37]
Chr16:16q21		 uncertain significance
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21		 pathogenic
GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1 copy number loss not provided [RCV001259855] Chr16:57292407..59103985 [GRCh37]
Chr16:16q13-21		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_56226148)_(58768132_?)del deletion Bardet-Biedl syndrome [RCV003119976]|Early infantile epileptic encephalopathy with suppression bursts [RCV003109791] Chr16:56226148..58768132 [GRCh37]
Chr16:16q12.2-21		 pathogenic
NC_000016.9:g.(?_57016057)_(58768132_?)del deletion not provided [RCV003122679] Chr16:57016057..58768132 [GRCh37]
Chr16:16q13-21		 pathogenic
Single allele deletion not provided [RCV002266766] Chr16:53818483..57631312 [GRCh38]
Chr16:16q12.2-21		 pathogenic
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 copy number gain not provided [RCV002472562] Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21		 pathogenic
NM_018110.5(DOK4):c.202G>A (p.Val68Ile) single nucleotide variant not specified [RCV004132808] Chr16:57475593 [GRCh38]
Chr16:57509505 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.277A>G (p.Thr93Ala) single nucleotide variant not specified [RCV004207582] Chr16:57475518 [GRCh38]
Chr16:57509430 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.721A>G (p.Met241Val) single nucleotide variant not specified [RCV004233921] Chr16:57473918 [GRCh38]
Chr16:57507830 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.529G>A (p.Val177Ile) single nucleotide variant not specified [RCV004086280] Chr16:57474863 [GRCh38]
Chr16:57508775 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.230G>A (p.Arg77Gln) single nucleotide variant not specified [RCV004161049] Chr16:57475565 [GRCh38]
Chr16:57509477 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.283G>A (p.Asp95Asn) single nucleotide variant not specified [RCV004130568] Chr16:57475512 [GRCh38]
Chr16:57509424 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.767C>T (p.Ser256Leu) single nucleotide variant not specified [RCV004091899] Chr16:57473708 [GRCh38]
Chr16:57507620 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.844G>A (p.Glu282Lys) single nucleotide variant not specified [RCV004241182] Chr16:57473631 [GRCh38]
Chr16:57507543 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.733G>A (p.Val245Met) single nucleotide variant not specified [RCV004084767] Chr16:57473906 [GRCh38]
Chr16:57507818 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.352G>A (p.Asp118Asn) single nucleotide variant not specified [RCV004193815] Chr16:57475157 [GRCh38]
Chr16:57509069 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.161G>A (p.Arg54Gln) single nucleotide variant not specified [RCV004190187] Chr16:57475863 [GRCh38]
Chr16:57509775 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.598C>T (p.Arg200Trp) single nucleotide variant not specified [RCV004197763] Chr16:57474794 [GRCh38]
Chr16:57508706 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.284A>C (p.Asp95Ala) single nucleotide variant not specified [RCV004177501] Chr16:57475511 [GRCh38]
Chr16:57509423 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.566G>A (p.Arg189Gln) single nucleotide variant not specified [RCV004150080] Chr16:57474826 [GRCh38]
Chr16:57508738 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.533C>T (p.Ser178Leu) single nucleotide variant not specified [RCV004187313] Chr16:57474859 [GRCh38]
Chr16:57508771 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.208C>T (p.Arg70Trp) single nucleotide variant not specified [RCV004104797] Chr16:57475587 [GRCh38]
Chr16:57509499 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.797C>T (p.Pro266Leu) single nucleotide variant not specified [RCV004103464] Chr16:57473678 [GRCh38]
Chr16:57507590 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.869G>C (p.Gly290Ala) single nucleotide variant not specified [RCV004088028] Chr16:57473489 [GRCh38]
Chr16:57507401 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.24C>G (p.Ile8Met) single nucleotide variant not specified [RCV004323103] Chr16:57479484 [GRCh38]
Chr16:57513396 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.665G>A (p.Arg222His) single nucleotide variant not specified [RCV004254411] Chr16:57473974 [GRCh38]
Chr16:57507886 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1 copy number loss not specified [RCV003987196] Chr16:55329260..67180113 [GRCh37]
Chr16:16q12.2-22.1		 pathogenic
NM_018110.5(DOK4):c.707G>A (p.Arg236Gln) single nucleotide variant not specified [RCV004384037] Chr16:57473932 [GRCh38]
Chr16:57507844 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.229C>T (p.Arg77Trp) single nucleotide variant not specified [RCV004384034] Chr16:57475566 [GRCh38]
Chr16:57509478 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.956G>A (p.Ser319Asn) single nucleotide variant not specified [RCV004384038] Chr16:57473402 [GRCh38]
Chr16:57507314 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.706C>T (p.Arg236Trp) single nucleotide variant not specified [RCV004384036] Chr16:57473933 [GRCh38]
Chr16:57507845 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.451G>A (p.Val151Met) single nucleotide variant not specified [RCV004624551] Chr16:57474941 [GRCh38]
Chr16:57508853 [GRCh37]
Chr16:16q21		 uncertain significance
NC_000016.9:g.(?_48799549)_(70756330_?)dup duplication Chromosome 16q12 duplication syndrome [RCV004595820] Chr16:48799549..70756330 [GRCh37]
Chr16:16q12.1-22.1		 likely pathogenic
NM_018110.5(DOK4):c.775T>G (p.Cys259Gly) single nucleotide variant not specified [RCV004624552] Chr16:57473700 [GRCh38]
Chr16:57507612 [GRCh37]
Chr16:16q21		 uncertain significance
NM_018110.5(DOK4):c.794T>G (p.Leu265Arg) single nucleotide variant not specified [RCV004624553] Chr16:57473681 [GRCh38]
Chr16:57507593 [GRCh37]
Chr16:16q21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8122
Count of miRNA genes:1060
Interacting mature miRNAs:1349
Transcripts:ENST00000340099, ENST00000561659, ENST00000561918, ENST00000562008, ENST00000562737, ENST00000563483, ENST00000564378, ENST00000566588, ENST00000566705, ENST00000566936, ENST00000567175, ENST00000567214, ENST00000567276, ENST00000568617, ENST00000569010, ENST00000569250, ENST00000569538, ENST00000569548
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406969539GWAS618515_Hmyositis QTL GWAS618515 (human)0.000008myositis165748127657481277Human

Markers in Region
D16S2591E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371657,506,041 - 57,506,131UniSTSGRCh37
Build 361656,063,542 - 56,063,632RGDNCBI36
Celera1642,006,893 - 42,006,983RGD
Cytogenetic Map16q13-q21UniSTS
Cytogenetic Map16q21UniSTS
HuRef1643,373,689 - 43,373,779UniSTS
D16S2566E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371657,505,988 - 57,506,057UniSTSGRCh37
Build 361656,063,489 - 56,063,558RGDNCBI36
Celera1642,006,840 - 42,006,909RGD
Cytogenetic Map16q13-q21UniSTS
Cytogenetic Map16q21UniSTS
HuRef1643,373,636 - 43,373,705UniSTS
GeneMap99-GB4 RH Map16363.18UniSTS
NCBI RH Map16472.9UniSTS
RH78396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371657,505,737 - 57,505,915UniSTSGRCh37
Build 361656,063,238 - 56,063,416RGDNCBI36
Celera1642,006,589 - 42,006,767RGD
Cytogenetic Map16q13-q21UniSTS
Cytogenetic Map16q21UniSTS
HuRef1643,373,385 - 43,373,563UniSTS
GeneMap99-GB4 RH Map16373.14UniSTS
NCBI RH Map16448.3UniSTS
D16S3334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371657,505,415 - 57,505,557UniSTSGRCh37
Build 361656,062,916 - 56,063,058RGDNCBI36
Celera1642,006,267 - 42,006,409RGD
Cytogenetic Map16q13-q21UniSTS
Cytogenetic Map16q21UniSTS
HuRef1643,373,063 - 43,373,205UniSTS
TNG Radiation Hybrid Map1623856.0UniSTS
Stanford-G3 RH Map162048.0UniSTS
NCBI RH Map16473.5UniSTS
GeneMap99-G3 RH Map162492.0UniSTS
STS-J05448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371657,505,492 - 57,505,752UniSTSGRCh37
Build 361656,062,993 - 56,063,253RGDNCBI36
Celera1642,006,344 - 42,006,604RGD
Cytogenetic Map16q13-q21UniSTS
Cytogenetic Map16q21UniSTS
HuRef1643,373,140 - 43,373,400UniSTS
GeneMap99-GB4 RH Map1252.79UniSTS
MARC_6240-6241:992007189:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371657,505,926 - 57,506,273UniSTSGRCh37
Build 361656,063,427 - 56,063,774RGDNCBI36
Celera1642,006,778 - 42,007,125RGD
HuRef1643,373,574 - 43,373,921UniSTS


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 2252 4974 1726 2351 6 624 1944 465 2270 7300 6466 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001330556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF466369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW163719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU633102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000340099   ⟹   ENSP00000344277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,471,922 - 57,486,493 (-)Ensembl
Ensembl Acc Id: ENST00000561659   ⟹   ENSP00000456864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,474,712 - 57,479,756 (-)Ensembl
Ensembl Acc Id: ENST00000561918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,474,890 - 57,479,794 (-)Ensembl
Ensembl Acc Id: ENST00000562008   ⟹   ENSP00000457188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,475,564 - 57,480,377 (-)Ensembl
Ensembl Acc Id: ENST00000562737   ⟹   ENSP00000457621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,475,162 - 57,481,853 (-)Ensembl
Ensembl Acc Id: ENST00000563483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,475,514 - 57,476,310 (-)Ensembl
Ensembl Acc Id: ENST00000564378   ⟹   ENSP00000458037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,475,161 - 57,479,914 (-)Ensembl
Ensembl Acc Id: ENST00000566588   ⟹   ENSP00000457670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,475,170 - 57,487,139 (-)Ensembl
Ensembl Acc Id: ENST00000566705   ⟹   ENSP00000454738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,475,559 - 57,484,294 (-)Ensembl
Ensembl Acc Id: ENST00000566936   ⟹   ENSP00000455566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,471,922 - 57,479,805 (-)Ensembl
Ensembl Acc Id: ENST00000567175   ⟹   ENSP00000455528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,475,863 - 57,487,327 (-)Ensembl
Ensembl Acc Id: ENST00000567214   ⟹   ENSP00000457212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,475,199 - 57,480,417 (-)Ensembl
Ensembl Acc Id: ENST00000567276   ⟹   ENSP00000457730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,475,169 - 57,479,872 (-)Ensembl
Ensembl Acc Id: ENST00000568617   ⟹   ENSP00000457192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,475,169 - 57,479,872 (-)Ensembl
Ensembl Acc Id: ENST00000569010   ⟹   ENSP00000457971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,473,901 - 57,484,098 (-)Ensembl
Ensembl Acc Id: ENST00000569250   ⟹   ENSP00000456590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,475,143 - 57,479,899 (-)Ensembl
Ensembl Acc Id: ENST00000569538   ⟹   ENSP00000456739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,475,209 - 57,487,322 (-)Ensembl
Ensembl Acc Id: ENST00000569548   ⟹   ENSP00000455128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,472,877 - 57,479,874 (-)Ensembl
RefSeq Acc Id: NM_001330556   ⟹   NP_001317485
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,479,757 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,274,967 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369618   ⟹   NP_001356547
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,486,493 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,281,703 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369619   ⟹   NP_001356548
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,480,377 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,275,587 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369620   ⟹   NP_001356549
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,480,377 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,275,587 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369621   ⟹   NP_001356550
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,479,757 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,274,967 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394652   ⟹   NP_001381581
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,487,322 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,282,532 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394653   ⟹   NP_001381582
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,487,322 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,282,532 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394654   ⟹   NP_001381583
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,480,389 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,275,599 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394655   ⟹   NP_001381584
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,480,389 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,275,599 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394656   ⟹   NP_001381585
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,486,493 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,281,703 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394657   ⟹   NP_001381586
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,487,322 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,282,532 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394658   ⟹   NP_001381587
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,487,322 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,282,532 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394659   ⟹   NP_001381588
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,480,389 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,275,599 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394660   ⟹   NP_001381589
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,480,389 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,275,599 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394661   ⟹   NP_001381590
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,486,493 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,281,703 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018110   ⟹   NP_060580
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,486,493 (-)NCBI
GRCh371657,505,870 - 57,520,385 (-)RGD
GRCh371657,505,870 - 57,520,385 (-)NCBI
Build 361656,063,374 - 56,077,828 (-)NCBI Archive
Celera1642,006,722 - 42,021,228 (-)RGD
HuRef1643,373,518 - 43,387,961 (-)RGD
CHM1_11658,913,924 - 58,928,449 (-)NCBI
T2T-CHM13v2.01663,267,111 - 63,281,703 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450347   ⟹   XP_024306115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,480,389 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047434361   ⟹   XP_047290317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,471,922 - 57,480,389 (-)NCBI
RefSeq Acc Id: XM_054313462   ⟹   XP_054169437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01663,267,111 - 63,275,599 (-)NCBI
RefSeq Acc Id: XM_054313463   ⟹   XP_054169438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01663,267,111 - 63,275,599 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001317485 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356547 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356548 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356549 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356550 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381581 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381582 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381583 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381584 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381585 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381586 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381587 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381588 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381589 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381590 (Get FASTA)   NCBI Sequence Viewer  
  NP_060580 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306115 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290317 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169437 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169438 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC24310 (Get FASTA)   NCBI Sequence Viewer  
  AAH01540 (Get FASTA)   NCBI Sequence Viewer  
  AAH03541 (Get FASTA)   NCBI Sequence Viewer  
  AAL74195 (Get FASTA)   NCBI Sequence Viewer  
  BAA91642 (Get FASTA)   NCBI Sequence Viewer  
  BAG37814 (Get FASTA)   NCBI Sequence Viewer  
  EAW82932 (Get FASTA)   NCBI Sequence Viewer  
  EAW82933 (Get FASTA)   NCBI Sequence Viewer  
  EAW82934 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000344277
  ENSP00000344277.4
  ENSP00000454738.1
  ENSP00000455128
  ENSP00000455128.1
  ENSP00000455528.1
  ENSP00000455566
  ENSP00000455566.1
  ENSP00000456590.1
  ENSP00000456739.1
  ENSP00000456864.1
  ENSP00000457188.1
  ENSP00000457192.1
  ENSP00000457212.1
  ENSP00000457621.1
  ENSP00000457670.1
  ENSP00000457730.1
  ENSP00000457971.1
  ENSP00000458037.1
GenBank Protein Q8TEW6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_060580   ⟸   NM_018110
- Peptide Label: isoform 1
- UniProtKB: Q9BTP2 (UniProtKB/Swiss-Prot),   O75209 (UniProtKB/Swiss-Prot),   Q9NVV3 (UniProtKB/Swiss-Prot),   Q8TEW6 (UniProtKB/Swiss-Prot),   B2RD67 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317485   ⟸   NM_001330556
- Peptide Label: isoform 2
- UniProtKB: H3BQ19 (UniProtKB/TrEMBL),   B2RD67 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306115   ⟸   XM_024450347
- Peptide Label: isoform X1
- UniProtKB: H3BQ19 (UniProtKB/TrEMBL),   B2RD67 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001356547   ⟸   NM_001369618
- Peptide Label: isoform 2
- UniProtKB: H3BQ19 (UniProtKB/TrEMBL),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356548   ⟸   NM_001369619
- Peptide Label: isoform 1
- UniProtKB: Q9BTP2 (UniProtKB/Swiss-Prot),   Q8TEW6 (UniProtKB/Swiss-Prot),   O75209 (UniProtKB/Swiss-Prot),   Q9NVV3 (UniProtKB/Swiss-Prot),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356549   ⟸   NM_001369620
- Peptide Label: isoform 2
- UniProtKB: H3BQ19 (UniProtKB/TrEMBL),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356550   ⟸   NM_001369621
- Peptide Label: isoform 1
- UniProtKB: Q9BTP2 (UniProtKB/Swiss-Prot),   Q8TEW6 (UniProtKB/Swiss-Prot),   O75209 (UniProtKB/Swiss-Prot),   Q9NVV3 (UniProtKB/Swiss-Prot),   B2RD67 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000455128   ⟸   ENST00000569548
Ensembl Acc Id: ENSP00000456739   ⟸   ENST00000569538
Ensembl Acc Id: ENSP00000456864   ⟸   ENST00000561659
Ensembl Acc Id: ENSP00000457188   ⟸   ENST00000562008
Ensembl Acc Id: ENSP00000457621   ⟸   ENST00000562737
Ensembl Acc Id: ENSP00000458037   ⟸   ENST00000564378
Ensembl Acc Id: ENSP00000344277   ⟸   ENST00000340099
Ensembl Acc Id: ENSP00000454738   ⟸   ENST00000566705
Ensembl Acc Id: ENSP00000457670   ⟸   ENST00000566588
Ensembl Acc Id: ENSP00000455566   ⟸   ENST00000566936
Ensembl Acc Id: ENSP00000455528   ⟸   ENST00000567175
Ensembl Acc Id: ENSP00000457212   ⟸   ENST00000567214
Ensembl Acc Id: ENSP00000457730   ⟸   ENST00000567276
Ensembl Acc Id: ENSP00000457192   ⟸   ENST00000568617
Ensembl Acc Id: ENSP00000456590   ⟸   ENST00000569250
Ensembl Acc Id: ENSP00000457971   ⟸   ENST00000569010
RefSeq Acc Id: NP_001381586   ⟸   NM_001394657
- Peptide Label: isoform 1
- UniProtKB: Q9BTP2 (UniProtKB/Swiss-Prot),   Q8TEW6 (UniProtKB/Swiss-Prot),   O75209 (UniProtKB/Swiss-Prot),   Q9NVV3 (UniProtKB/Swiss-Prot),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381582   ⟸   NM_001394653
- Peptide Label: isoform 2
- UniProtKB: H3BQ19 (UniProtKB/TrEMBL),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381587   ⟸   NM_001394658
- Peptide Label: isoform 1
- UniProtKB: Q9BTP2 (UniProtKB/Swiss-Prot),   Q8TEW6 (UniProtKB/Swiss-Prot),   O75209 (UniProtKB/Swiss-Prot),   Q9NVV3 (UniProtKB/Swiss-Prot),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381581   ⟸   NM_001394652
- Peptide Label: isoform 2
- UniProtKB: H3BQ19 (UniProtKB/TrEMBL),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381590   ⟸   NM_001394661
- Peptide Label: isoform 1
- UniProtKB: Q9BTP2 (UniProtKB/Swiss-Prot),   Q8TEW6 (UniProtKB/Swiss-Prot),   O75209 (UniProtKB/Swiss-Prot),   Q9NVV3 (UniProtKB/Swiss-Prot),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381585   ⟸   NM_001394656
- Peptide Label: isoform 2
- UniProtKB: H3BQ19 (UniProtKB/TrEMBL),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381583   ⟸   NM_001394654
- Peptide Label: isoform 2
- UniProtKB: H3BQ19 (UniProtKB/TrEMBL),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381588   ⟸   NM_001394659
- Peptide Label: isoform 1
- UniProtKB: Q9BTP2 (UniProtKB/Swiss-Prot),   Q8TEW6 (UniProtKB/Swiss-Prot),   O75209 (UniProtKB/Swiss-Prot),   Q9NVV3 (UniProtKB/Swiss-Prot),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381589   ⟸   NM_001394660
- Peptide Label: isoform 1
- UniProtKB: Q9BTP2 (UniProtKB/Swiss-Prot),   Q8TEW6 (UniProtKB/Swiss-Prot),   O75209 (UniProtKB/Swiss-Prot),   Q9NVV3 (UniProtKB/Swiss-Prot),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381584   ⟸   NM_001394655
- Peptide Label: isoform 2
- UniProtKB: H3BQ19 (UniProtKB/TrEMBL),   B2RD67 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047290317   ⟸   XM_047434361
- Peptide Label: isoform X2
- UniProtKB: Q9BTP2 (UniProtKB/Swiss-Prot),   Q8TEW6 (UniProtKB/Swiss-Prot),   O75209 (UniProtKB/Swiss-Prot),   Q9NVV3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054169438   ⟸   XM_054313463
- Peptide Label: isoform X2
- UniProtKB: Q9BTP2 (UniProtKB/Swiss-Prot),   Q8TEW6 (UniProtKB/Swiss-Prot),   O75209 (UniProtKB/Swiss-Prot),   Q9NVV3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054169437   ⟸   XM_054313462
- Peptide Label: isoform X1
- UniProtKB: H3BQ19 (UniProtKB/TrEMBL)
Protein Domains
IRS-type PTB   PH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TEW6-F1-model_v2 AlphaFold Q8TEW6 1-326 view protein structure

Promoters
RGD ID:6792974
Promoter ID:HG_KWN:23901
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC002ELU.1,   UC010CDB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361656,071,544 - 56,072,044 (-)MPROMDB
RGD ID:6792975
Promoter ID:HG_KWN:23902
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000257335
Position:
Human AssemblyChrPosition (strand)Source
Build 361656,077,756 - 56,078,647 (-)MPROMDB
RGD ID:7232333
Promoter ID:EPDNEW_H21912
Type:initiation region
Name:DOK4_2
Description:docking protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21914  EPDNEW_H21913  EPDNEW_H21915  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,479,798 - 57,479,858EPDNEW
RGD ID:7232337
Promoter ID:EPDNEW_H21913
Type:initiation region
Name:DOK4_4
Description:docking protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21912  EPDNEW_H21914  EPDNEW_H21915  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,479,902 - 57,479,962EPDNEW
RGD ID:7232335
Promoter ID:EPDNEW_H21914
Type:initiation region
Name:DOK4_3
Description:docking protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21912  EPDNEW_H21913  EPDNEW_H21915  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,480,379 - 57,480,439EPDNEW
RGD ID:7232341
Promoter ID:EPDNEW_H21915
Type:initiation region
Name:DOK4_1
Description:docking protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21912  EPDNEW_H21914  EPDNEW_H21913  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,486,473 - 57,486,533EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19868 AgrOrtholog
COSMIC DOK4 COSMIC
Ensembl Genes ENSG00000125170 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340099 ENTREZGENE
  ENST00000340099.10 UniProtKB/Swiss-Prot
  ENST00000561659.5 UniProtKB/TrEMBL
  ENST00000562008.5 UniProtKB/TrEMBL
  ENST00000562737.5 UniProtKB/TrEMBL
  ENST00000564378.5 UniProtKB/TrEMBL
  ENST00000566588.5 UniProtKB/TrEMBL
  ENST00000566705.5 UniProtKB/TrEMBL
  ENST00000566936 ENTREZGENE
  ENST00000566936.5 UniProtKB/TrEMBL
  ENST00000567175.1 UniProtKB/TrEMBL
  ENST00000567214.5 UniProtKB/TrEMBL
  ENST00000567276.5 UniProtKB/TrEMBL
  ENST00000568617.5 UniProtKB/TrEMBL
  ENST00000569010.5 UniProtKB/TrEMBL
  ENST00000569250.5 UniProtKB/TrEMBL
  ENST00000569538.5 UniProtKB/TrEMBL
  ENST00000569548 ENTREZGENE
  ENST00000569548.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125170 GTEx
HGNC ID HGNC:19868 ENTREZGENE
Human Proteome Map DOK4 Human Proteome Map
InterPro Docking_Protein_DOK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DOK4/5/6_PH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRS_PTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55715 UniProtKB/Swiss-Prot
NCBI Gene 55715 ENTREZGENE
OMIM 608333 OMIM
PANTHER DOCKING PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DOCKING PROTEIN RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IRS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134892921 PharmGKB
PROSITE IRS_PTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IRS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTBI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GX86_HUMAN UniProtKB/TrEMBL
  B2RD67 ENTREZGENE, UniProtKB/TrEMBL
  DOK4_HUMAN UniProtKB/Swiss-Prot
  H3BN90_HUMAN UniProtKB/TrEMBL
  H3BPY9_HUMAN UniProtKB/TrEMBL
  H3BQ19 ENTREZGENE, UniProtKB/TrEMBL
  H3BS85_HUMAN UniProtKB/TrEMBL
  H3BSK0_HUMAN UniProtKB/TrEMBL
  H3BST9_HUMAN UniProtKB/TrEMBL
  H3BTI4_HUMAN UniProtKB/TrEMBL
  H3BTI7_HUMAN UniProtKB/TrEMBL
  H3BTK2_HUMAN UniProtKB/TrEMBL
  H3BV67_HUMAN UniProtKB/TrEMBL
  H3BVB4_HUMAN UniProtKB/TrEMBL
  O75209 ENTREZGENE
  Q8TEW6 ENTREZGENE
  Q9BTP2 ENTREZGENE
  Q9NVV3 ENTREZGENE
UniProt Secondary A0A0A6YYN9 UniProtKB/TrEMBL
  A0A0K0K1F8 UniProtKB/TrEMBL
  H3BUG3 UniProtKB/TrEMBL
  O75209 UniProtKB/Swiss-Prot
  Q9BTP2 UniProtKB/Swiss-Prot
  Q9NVV3 UniProtKB/Swiss-Prot