DDX11 (DEAD/H-box helicase 11) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: DDX11 (DEAD/H-box helicase 11) Homo sapiens
Analyze
Symbol: DDX11
Name: DEAD/H-box helicase 11
RGD ID: 1315426
HGNC Page HGNC:2736
Description: Enables several functions, including 5'-3' DNA helicase activity; ATP-dependent activity, acting on RNA; and nucleic acid binding activity. Involved in several processes, including cellular response to bleomycin; chromosome organization; and positive regulation of nucleobase-containing compound metabolic process. Located in microtubule cytoskeleton; midbody; and nucleus. Part of chromatin. Implicated in Warsaw breakage syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-dependent DNA helicase DDX11; CHL1; CHL1-like helicase homolog; CHL1-related helicase gene-1; CHL1-related protein 1; CHLR1; DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae); DEAD/H box protein 11; hCHLR1; keratinocyte growth factor-regulated gene 2 protein; KRG-2; KRG2; MGC133249; MGC9335; probable ATP-dependent DNA helicase DDX11; probable ATP-dependent RNA helicase DDX11; WABS
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
GRCh381231,073,860 - 31,104,799 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1231,073,860 - 31,104,799 (+)EnsemblGRCh38hg38GRCh38
GRCh371231,226,794 - 31,257,733 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361231,118,046 - 31,148,992 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map12p11.21NCBI
HuRef1230,992,012 - 31,022,870 (+)NCBIHuRef
CHM1_11231,191,725 - 31,222,687 (+)NCBICHM1_1
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)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

Cellular Component
centrosome  (IDA,IEA)
chromatin  (IDA)
chromosome  (IEA)
Ctf18 RFC-like complex  (IDA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
extracellular exosome  (HDA)
midbody  (IDA,IEA)
mitotic cohesin complex  (IDA)
nucleolus  (IDA,IEA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA)
spindle pole  (IDA,IEA)

References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8530100   PMID:8798685   PMID:8833153   PMID:9013641   PMID:10648783   PMID:12477932   PMID:14702039   PMID:15252450   PMID:15489334   PMID:15520935   PMID:16169070   PMID:17105772  
PMID:17189189   PMID:18499658   PMID:18570454   PMID:19884766   PMID:20124417   PMID:20137776   PMID:21489590   PMID:21854770   PMID:21873635   PMID:22102414   PMID:22678773   PMID:23033317  
PMID:23116066   PMID:23797032   PMID:24487782   PMID:25561740   PMID:26032365   PMID:26089203   PMID:26186194   PMID:26344197   PMID:26474416   PMID:26496610   PMID:26503245   PMID:27477908  
PMID:27795438   PMID:28215707   PMID:28514442   PMID:28960803   PMID:29778605   PMID:30021884   PMID:30061412   PMID:30303954   PMID:31091453   PMID:31097223   PMID:31169992   PMID:31935221  
PMID:32014424   PMID:32071282   PMID:32271422   PMID:32332880   PMID:32422563   PMID:32705708   PMID:32707033   PMID:32772230   PMID:32855419   PMID:33591602   PMID:33961781   PMID:34133714  
PMID:34299244   PMID:35271311   PMID:35563538   PMID:37592094   PMID:37689310   PMID:37993668  


Genomics

Comparative Map Data
DDX11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381231,073,860 - 31,104,799 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1231,073,860 - 31,104,799 (+)EnsemblGRCh38hg38GRCh38
GRCh371231,226,794 - 31,257,733 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361231,118,046 - 31,148,992 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map12p11.21NCBI
HuRef1230,992,012 - 31,022,870 (+)NCBIHuRef
CHM1_11231,191,725 - 31,222,687 (+)NCBICHM1_1
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBIT2T-CHM13v2.0
Ddx11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391766,430,508 - 66,459,169 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1766,430,515 - 66,459,169 (+)EnsemblGRCm39 Ensembl
GRCm381766,123,513 - 66,152,174 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1766,123,520 - 66,152,174 (+)EnsemblGRCm38mm10GRCm38
MGSCv371766,472,860 - 66,501,508 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361766,023,063 - 66,051,715 (+)NCBIMGSCv36mm8
Celera1770,431,796 - 70,460,387 (+)NCBICelera
Cytogenetic Map17E1.1NCBI
cM Map1735.26NCBI
Ddx11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89113,204,886 - 113,309,692 (+)NCBIGRCr8
mRatBN7.29105,833,234 - 105,862,844 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl9105,833,504 - 105,862,550 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.09114,113,642 - 114,133,908 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl9114,111,580 - 114,132,492 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.09113,624,011 - 113,649,000 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.49105,004,683 - 105,029,456NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.19105,109,790 - 105,239,631NCBI
Cytogenetic Map9q37NCBI
Ddx11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555241,932,729 - 1,957,231 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555241,932,988 - 1,957,231 (+)NCBIChiLan1.0ChiLan1.0
DDX11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21065,677,702 - 65,710,223 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11265,674,095 - 65,705,031 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01255,176,165 - 55,207,123 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
DDX11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12742,067,845 - 42,102,699 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2742,067,898 - 42,105,870 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha274,579,582 - 4,616,009 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02742,426,383 - 42,462,807 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2742,426,426 - 42,464,432 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12742,367,678 - 42,404,085 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02742,337,315 - 42,373,743 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0273,939,763 - 3,976,206 (-)NCBIUU_Cfam_GSD_1.0
Ddx11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945108,974,809 - 108,998,353 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936606186,223 - 208,499 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936606181,457 - 209,286 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DDX11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl567,364,877 - 67,395,730 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1567,359,399 - 67,395,739 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2569,616,368 - 69,630,616 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DDX11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1119,260,206 - 9,290,308 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl119,260,239 - 9,291,162 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660891,363,928 - 1,395,863 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ddx11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624828269,843 - 302,301 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624828269,444 - 301,899 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DDX11
160 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_030653.4(DDX11):c.2271+2T>C single nucleotide variant Warsaw breakage syndrome [RCV000008874] Chr12:31102313 [GRCh38]
Chr12:31255247 [GRCh37]
Chr12:12p11.21
pathogenic
NM_030653.4(DDX11):c.2689_2691del (p.Lys897del) deletion Warsaw breakage syndrome [RCV000008875] Chr12:31103727..31103729 [GRCh38]
Chr12:31256661..31256663 [GRCh37]
Chr12:12p11.21
pathogenic
NM_030653.4(DDX11):c.788G>A (p.Arg263Gln) single nucleotide variant Warsaw breakage syndrome [RCV000033122] Chr12:31089147 [GRCh38]
Chr12:31242081 [GRCh37]
Chr12:12p11.21
pathogenic
GRCh38/hg38 12p12.1-11.21(chr12:21771052-32222232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|See cases [RCV000052783] Chr12:21771052..32222232 [GRCh38]
Chr12:21923986..32375166 [GRCh37]
Chr12:21815253..32266433 [NCBI36]
Chr12:12p12.1-11.21
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_030653.4(DDX11):c.2692-1G>A single nucleotide variant Inborn genetic diseases [RCV004040208]|Warsaw breakage syndrome [RCV002471148]|not provided [RCV001757206] Chr12:31103806 [GRCh38]
Chr12:31256740 [GRCh37]
Chr12:12p11.21
pathogenic|uncertain significance
GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1 copy number loss See cases [RCV000133858] Chr12:25263833..34064528 [GRCh38]
Chr12:25416767..34217463 [GRCh37]
Chr12:25308034..34108730 [NCBI36]
Chr12:12p12.1-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_030653.4(DDX11):c.1242+4T>C single nucleotide variant not specified [RCV000202837] Chr12:31091875 [GRCh38]
Chr12:31244809 [GRCh37]
Chr12:12p11.21
uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_030653.4(DDX11):c.1774C>G (p.Gln592Glu) single nucleotide variant not specified [RCV000203006] Chr12:31097896 [GRCh38]
Chr12:31250830 [GRCh37]
Chr12:12p11.21
uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) single nucleotide variant Warsaw breakage syndrome [RCV000762794] Chr12:31103616 [GRCh38]
Chr12:31256550 [GRCh37]
Chr12:12p11.21
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_030653.4(DDX11):c.2223C>G (p.Ser741Arg) single nucleotide variant not provided [RCV000224368] Chr12:31102263 [GRCh38]
Chr12:31255197 [GRCh37]
Chr12:12p11.21
benign|likely benign
GRCh37/hg19 12p11.21(chr12:31157554-31391194)x3 copy number gain Premature ovarian failure [RCV000225111] Chr12:31157554..31391194 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.1763-1G>C single nucleotide variant Warsaw breakage syndrome [RCV000991173]|not provided [RCV000238763] Chr12:31097884 [GRCh38]
Chr12:31250818 [GRCh37]
Chr12:12p11.21
pathogenic|likely pathogenic
NM_030653.4(DDX11):c.2229C>G (p.His743Gln) single nucleotide variant not specified [RCV000239047] Chr12:31102269 [GRCh38]
Chr12:31255203 [GRCh37]
Chr12:12p11.21
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_030653.4(DDX11):c.223C>T (p.Arg75Ter) single nucleotide variant Inborn genetic diseases [RCV000622513] Chr12:31083891 [GRCh38]
Chr12:31236825 [GRCh37]
Chr12:12p11.21
pathogenic
NM_030653.4(DDX11):c.484C>T (p.Gln162Ter) single nucleotide variant not provided [RCV000579358] Chr12:31084972 [GRCh38]
Chr12:31237906 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_030653.4(DDX11):c.1949-1G>A single nucleotide variant not provided [RCV000414224] Chr12:31101026 [GRCh38]
Chr12:31253960 [GRCh37]
Chr12:12p11.21
likely pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_030653.4(DDX11):c.1523T>G (p.Leu508Arg) single nucleotide variant Inborn genetic diseases [RCV002524738]|not provided [RCV000435505] Chr12:31096638 [GRCh38]
Chr12:31249572 [GRCh37]
Chr12:12p11.21
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_030653.4(DDX11):c.1160_1165del (p.Asp387_Gln388del) deletion not provided [RCV000442129] Chr12:31091785..31091790 [GRCh38]
Chr12:31244719..31244724 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1133G>C (p.Arg378Pro) single nucleotide variant Warsaw breakage syndrome [RCV000762793]|not provided [RCV000487130] Chr12:31091762 [GRCh38]
Chr12:31244696 [GRCh37]
Chr12:12p11.21
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3 copy number gain See cases [RCV000512134] Chr12:29579030..34835837 [GRCh37]
Chr12:12p11.22-11.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3 copy number gain See cases [RCV000512027] Chr12:29123400..40956186 [GRCh37]
Chr12:12p11.22-q12
likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13
uncertain significance
NM_030653.4(DDX11):c.515G>A (p.Arg172His) single nucleotide variant Inborn genetic diseases [RCV003270973] Chr12:31085003 [GRCh38]
Chr12:31237937 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1633C>T (p.Leu545Phe) single nucleotide variant Inborn genetic diseases [RCV003264542] Chr12:31096861 [GRCh38]
Chr12:31249795 [GRCh37]
Chr12:12p11.21
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_030653.4(DDX11):c.2635C>T (p.Arg879Ter) single nucleotide variant Warsaw breakage syndrome [RCV000709978] Chr12:31103675 [GRCh38]
Chr12:31256609 [GRCh37]
Chr12:12p11.21
not provided
NM_030653.4(DDX11):c.1888del (p.Arg630fs) deletion Warsaw breakage syndrome [RCV000709979] Chr12:31100646 [GRCh38]
Chr12:31253580 [GRCh37]
Chr12:12p11.21
pathogenic|not provided
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
NM_030653.4(DDX11):c.684+8A>G single nucleotide variant Warsaw breakage syndrome [RCV001661379]|not provided [RCV001713675] Chr12:31087991 [GRCh38]
Chr12:31240925 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.1040C>A (p.Ala347Asp) single nucleotide variant not provided [RCV001612618] Chr12:31090045 [GRCh38]
Chr12:31242979 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.*69G>A single nucleotide variant not provided [RCV001573371] Chr12:31103905 [GRCh38]
Chr12:31256839 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.39T>C (p.Phe13=) single nucleotide variant not provided [RCV000917565] Chr12:31078432 [GRCh38]
Chr12:31231366 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1841G>A (p.Arg614Gln) single nucleotide variant not provided [RCV000994882] Chr12:31097963 [GRCh38]
Chr12:31250897 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2230C>T (p.Gln744Ter) single nucleotide variant Warsaw breakage syndrome [RCV003223415]|not provided [RCV000994883] Chr12:31102270 [GRCh38]
Chr12:31255204 [GRCh37]
Chr12:12p11.21
pathogenic|likely pathogenic
NM_030653.4(DDX11):c.1819G>C (p.Ala607Pro) single nucleotide variant Warsaw breakage syndrome [RCV000988803] Chr12:31097941 [GRCh38]
Chr12:31250875 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2301del (p.Ala769fs) deletion not provided [RCV001547126] Chr12:31102456 [GRCh38]
Chr12:31255390 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1415-7T>C single nucleotide variant not provided [RCV000949360]|not specified [RCV001726378] Chr12:31094748 [GRCh38]
Chr12:31247682 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_030653.4(DDX11):c.639-11CA[4] microsatellite not provided [RCV000923065] Chr12:31087927..31087928 [GRCh38]
Chr12:31240861..31240862 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.90G>C (p.Leu30=) single nucleotide variant not provided [RCV000883754] Chr12:31078483 [GRCh38]
Chr12:31231417 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.851G>A (p.Arg284His) single nucleotide variant not provided [RCV000897664] Chr12:31089461 [GRCh38]
Chr12:31242395 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.94C>T (p.Arg32Trp) single nucleotide variant not provided [RCV000942302] Chr12:31078487 [GRCh38]
Chr12:31231421 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.1912G>A (p.Gly638Arg) single nucleotide variant not provided [RCV000904514] Chr12:31100671 [GRCh38]
Chr12:31253605 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2466C>G (p.Ala822=) single nucleotide variant Inborn genetic diseases [RCV004029476]|not provided [RCV000922177] Chr12:31103325 [GRCh38]
Chr12:31256259 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_030653.4(DDX11):c.1357G>T (p.Ala453Ser) single nucleotide variant not provided [RCV000969620] Chr12:31093312 [GRCh38]
Chr12:31246246 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1698C>T (p.Ile566=) single nucleotide variant not provided [RCV000882765] Chr12:31096926 [GRCh38]
Chr12:31249860 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.1369+8C>T single nucleotide variant not provided [RCV000882025] Chr12:31093332 [GRCh38]
Chr12:31246266 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.1818T>C (p.Phe606=) single nucleotide variant not provided [RCV000942952] Chr12:31097940 [GRCh38]
Chr12:31250874 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1693C>T (p.His565Tyr) single nucleotide variant not provided [RCV000960375] Chr12:31096921 [GRCh38]
Chr12:31249855 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.639-10A>T single nucleotide variant Warsaw breakage syndrome [RCV001664563]|not provided [RCV000947443] Chr12:31087928 [GRCh38]
Chr12:31240862 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.1809T>C (p.Ala603=) single nucleotide variant not provided [RCV000898898] Chr12:31097931 [GRCh38]
Chr12:31250865 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2457+1G>T single nucleotide variant Warsaw breakage syndrome [RCV000791059] Chr12:31103021 [GRCh38]
Chr12:31255955 [GRCh37]
Chr12:12p11.21
pathogenic
NM_030653.4(DDX11):c.2513T>C (p.Met838Thr) single nucleotide variant not provided [RCV000879821] Chr12:31103372 [GRCh38]
Chr12:31256306 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.639-8A>T single nucleotide variant not provided [RCV000980870] Chr12:31087930 [GRCh38]
Chr12:31240864 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1657C>G (p.Gln553Glu) single nucleotide variant not provided [RCV000903316] Chr12:31096885 [GRCh38]
Chr12:31249819 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.1414+9G>T single nucleotide variant not provided [RCV000979656] Chr12:31094643 [GRCh38]
Chr12:31247577 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1536T>C (p.Thr512=) single nucleotide variant not provided [RCV000943230] Chr12:31096651 [GRCh38]
Chr12:31249585 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.315G>A (p.Pro105=) single nucleotide variant not provided [RCV000899964] Chr12:31083983 [GRCh38]
Chr12:31236917 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.48C>T (p.Pro16=) single nucleotide variant not provided [RCV000915430] Chr12:31078441 [GRCh38]
Chr12:31231375 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.399G>A (p.Glu133=) single nucleotide variant not provided [RCV000923343] Chr12:31084588 [GRCh38]
Chr12:31237522 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.450G>A (p.Arg150=) single nucleotide variant not provided [RCV000915431] Chr12:31084639 [GRCh38]
Chr12:31237573 [GRCh37]
Chr12:12p11.21
likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_030653.4(DDX11):c.1290-6_1290-4del microsatellite not provided [RCV000919168] Chr12:31093234..31093236 [GRCh38]
Chr12:31246168..31246170 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1699C>G (p.Gln567Glu) single nucleotide variant Warsaw breakage syndrome [RCV000988802] Chr12:31096927 [GRCh38]
Chr12:31249861 [GRCh37]
Chr12:12p11.21
benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_030653.4(DDX11):c.*159G>A single nucleotide variant not provided [RCV003312224] Chr12:31103995 [GRCh38]
Chr12:31256929 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.2572G>A (p.Val858Ile) single nucleotide variant Warsaw breakage syndrome [RCV000988804] Chr12:31103612 [GRCh38]
Chr12:31256546 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.638+15G>A single nucleotide variant Warsaw breakage syndrome [RCV001661378]|not provided [RCV001762733] Chr12:31085141 [GRCh38]
Chr12:31238075 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.855T>C (p.Cys285=) single nucleotide variant Warsaw breakage syndrome [RCV001661380] Chr12:31089465 [GRCh38]
Chr12:31242399 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.880+16A>G single nucleotide variant Warsaw breakage syndrome [RCV001661381] Chr12:31089506 [GRCh38]
Chr12:31242440 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.2053-15C>T single nucleotide variant Warsaw breakage syndrome [RCV001661383] Chr12:31101818 [GRCh38]
Chr12:31254752 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.2536+13G>A single nucleotide variant Warsaw breakage syndrome [RCV001661385] Chr12:31103408 [GRCh38]
Chr12:31256342 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.2316C>T (p.Leu772=) single nucleotide variant not provided [RCV001614946] Chr12:31102471 [GRCh38]
Chr12:31255405 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.188G>A (p.Arg63His) single nucleotide variant Inborn genetic diseases [RCV003252932] Chr12:31083856 [GRCh38]
Chr12:31236790 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.639-11CA[3] microsatellite not provided [RCV000885220] Chr12:31087927..31087930 [GRCh38]
Chr12:31240861..31240864 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.639-6A>T single nucleotide variant not provided [RCV000885221] Chr12:31087932 [GRCh38]
Chr12:31240866 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.254A>G (p.His85Arg) single nucleotide variant Inborn genetic diseases [RCV004029859]|not provided [RCV000954279] Chr12:31083922 [GRCh38]
Chr12:31236856 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2352C>T (p.Asn784=) single nucleotide variant not provided [RCV000919331] Chr12:31102507 [GRCh38]
Chr12:31255441 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2271+4C>T single nucleotide variant not provided [RCV000887439] Chr12:31102315 [GRCh38]
Chr12:31255249 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.147G>A (p.Gly49=) single nucleotide variant not provided [RCV000879662] Chr12:31083815 [GRCh38]
Chr12:31236749 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_030653.4(DDX11):c.2198A>G (p.Lys733Arg) single nucleotide variant not provided [RCV000962250] Chr12:31101978 [GRCh38]
Chr12:31254912 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.419G>A (p.Arg140Gln) single nucleotide variant not provided [RCV000888425] Chr12:31084608 [GRCh38]
Chr12:31237542 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_030653.4(DDX11):c.2058C>T (p.Asp686=) single nucleotide variant not provided [RCV000932978] Chr12:31101838 [GRCh38]
Chr12:31254772 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1623G>A (p.Thr541=) single nucleotide variant not provided [RCV000882652] Chr12:31096738 [GRCh38]
Chr12:31249672 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1521+6T>C single nucleotide variant not provided [RCV000952702]|not specified [RCV003151233] Chr12:31096385 [GRCh38]
Chr12:31249319 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.1715C>T (p.Ala572Val) single nucleotide variant not provided [RCV000889078] Chr12:31096943 [GRCh38]
Chr12:31249877 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1299G>A (p.Leu433=) single nucleotide variant not provided [RCV000913159] Chr12:31093254 [GRCh38]
Chr12:31246188 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.394-7C>T single nucleotide variant not provided [RCV000913342] Chr12:31084576 [GRCh38]
Chr12:31237510 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1626T>C (p.Thr542=) single nucleotide variant not provided [RCV000933652] Chr12:31096741 [GRCh38]
Chr12:31249675 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2580C>T (p.Leu860=) single nucleotide variant not provided [RCV000911218] Chr12:31103620 [GRCh38]
Chr12:31256554 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1932G>A (p.Val644=) single nucleotide variant not provided [RCV000913462] Chr12:31100691 [GRCh38]
Chr12:31253625 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2638dup (p.Ala880fs) duplication not provided [RCV001556740] Chr12:31103677..31103678 [GRCh38]
Chr12:31256611..31256612 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_030653.4(DDX11):c.2602C>G (p.Pro868Ala) single nucleotide variant not provided [RCV003234402] Chr12:31103642 [GRCh38]
Chr12:31256576 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2543C>T (p.Ala848Val) single nucleotide variant not provided [RCV001691057] Chr12:31103583 [GRCh38]
Chr12:31256517 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.332C>T (p.Pro111Leu) single nucleotide variant not provided [RCV001665390] Chr12:31084000 [GRCh38]
Chr12:31236934 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2017G>T (p.Glu673Ter) single nucleotide variant Warsaw breakage syndrome [RCV001170038] Chr12:31101095 [GRCh38]
Chr12:31254029 [GRCh37]
Chr12:12p11.21
pathogenic
NM_030653.4(DDX11):c.2600G>A (p.Arg867Gln) single nucleotide variant Inborn genetic diseases [RCV002549249]|Microcephaly [RCV001252792] Chr12:31103640 [GRCh38]
Chr12:31256574 [GRCh37]
Chr12:12p11.21
uncertain significance
GRCh37/hg19 12p11.21(chr12:30931389-31247803)x3 copy number gain not provided [RCV001258512] Chr12:30931389..31247803 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2537-1G>A single nucleotide variant Warsaw breakage syndrome [RCV001330070] Chr12:31103576 [GRCh38]
Chr12:31256510 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_030653.4(DDX11):c.2373-2A>G single nucleotide variant Warsaw breakage syndrome [RCV001334282] Chr12:31102934 [GRCh38]
Chr12:31255868 [GRCh37]
Chr12:12p11.21
pathogenic
NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter) single nucleotide variant Warsaw breakage syndrome [RCV001280798] Chr12:31096900 [GRCh38]
Chr12:31249834 [GRCh37]
Chr12:12p11.21
pathogenic|likely pathogenic
NM_030653.4(DDX11):c.927G>C (p.Gln309His) single nucleotide variant Inborn genetic diseases [RCV003247024]|not provided [RCV001786694] Chr12:31089932 [GRCh38]
Chr12:31242866 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1901_1927delinsCG (p.Leu634fs) indel Warsaw breakage syndrome [RCV001330069] Chr12:31100660..31100686 [GRCh38]
Chr12:31253594..31253620 [GRCh37]
Chr12:12p11.21
pathogenic
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) duplication Warsaw breakage syndrome [RCV001280920]|not provided [RCV001577234] Chr12:31094622..31094623 [GRCh38]
Chr12:31247556..31247557 [GRCh37]
Chr12:12p11.21
pathogenic|likely pathogenic
NM_030653.4(DDX11):c.628del (p.Val210fs) deletion Warsaw breakage syndrome [RCV001780922] Chr12:31085115 [GRCh38]
Chr12:31238049 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_030653.4(DDX11):c.1482+2T>C single nucleotide variant Warsaw breakage syndrome [RCV001333269] Chr12:31094824 [GRCh38]
Chr12:31247758 [GRCh37]
Chr12:12p11.21
pathogenic
NM_030653.4(DDX11):c.1106A>G (p.Tyr369Cys) single nucleotide variant not provided [RCV001528351] Chr12:31091735 [GRCh38]
Chr12:31244669 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1983C>T (p.Leu661=) single nucleotide variant Warsaw breakage syndrome [RCV001661382]|not provided [RCV001685558] Chr12:31101061 [GRCh38]
Chr12:31253995 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.2271+18G>A single nucleotide variant Warsaw breakage syndrome [RCV001661384]|not provided [RCV001685559] Chr12:31102329 [GRCh38]
Chr12:31255263 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.767G>A (p.Arg256Gln) single nucleotide variant Inborn genetic diseases [RCV003101354]|not specified [RCV002247128] Chr12:31089126 [GRCh38]
Chr12:31242060 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.395C>T (p.Ala132Val) single nucleotide variant not provided [RCV001763665] Chr12:31084584 [GRCh38]
Chr12:31237518 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2413T>G (p.Ser805Ala) single nucleotide variant not provided [RCV001768956] Chr12:31102976 [GRCh38]
Chr12:31255910 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.545C>T (p.Pro182Leu) single nucleotide variant not provided [RCV003394270]|not specified [RCV001817334] Chr12:31085033 [GRCh38]
Chr12:31237967 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2096T>C (p.Val699Ala) single nucleotide variant Warsaw breakage syndrome [RCV001823624] Chr12:31101876 [GRCh38]
Chr12:31254810 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1466A>T (p.Asn489Ile) single nucleotide variant Warsaw breakage syndrome [RCV001823625] Chr12:31094806 [GRCh38]
Chr12:31247740 [GRCh37]
Chr12:12p11.21
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_030653.4(DDX11):c.2225C>T (p.Ala742Val) single nucleotide variant Inborn genetic diseases [RCV004045180]|not provided [RCV002244572] Chr12:31102265 [GRCh38]
Chr12:31255199 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1060G>A (p.Gly354Arg) single nucleotide variant not provided [RCV002244487] Chr12:31090065 [GRCh38]
Chr12:31242999 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_030653.4(DDX11):c.1862dup (p.Thr622fs) duplication Warsaw breakage syndrome [RCV002272904] Chr12:31097978..31097979 [GRCh38]
Chr12:31250912..31250913 [GRCh37]
Chr12:12p11.21
pathogenic
NM_030653.4(DDX11):c.2606C>T (p.Pro869Leu) single nucleotide variant not provided [RCV002287080] Chr12:31103646 [GRCh38]
Chr12:31256580 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1723A>G (p.Thr575Ala) single nucleotide variant not provided [RCV002286945] Chr12:31096951 [GRCh38]
Chr12:31249885 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2372G>A (p.Arg791Gln) single nucleotide variant Warsaw breakage syndrome [RCV003989765]|not provided [RCV002293704]|not specified [RCV003324017] Chr12:31102527 [GRCh38]
Chr12:31255461 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1630G>C (p.Ala544Pro) single nucleotide variant Warsaw breakage syndrome [RCV003153145] Chr12:31096745 [GRCh38]
Chr12:31249679 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1419G>A (p.Thr473=) single nucleotide variant not specified [RCV003151498] Chr12:31094759 [GRCh38]
Chr12:31247693 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.481-2del deletion Inborn genetic diseases [RCV002571504]|not provided [RCV002474030] Chr12:31084967 [GRCh38]
Chr12:31237901 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1185G>A (p.Ala395=) single nucleotide variant not provided [RCV002464800] Chr12:31091814 [GRCh38]
Chr12:31244748 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.877C>T (p.His293Tyr) single nucleotide variant Warsaw breakage syndrome [RCV002471737] Chr12:31089487 [GRCh38]
Chr12:31242421 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1180G>A (p.Glu394Lys) single nucleotide variant Warsaw breakage syndrome [RCV002471736] Chr12:31091809 [GRCh38]
Chr12:31244743 [GRCh37]
Chr12:12p11.21
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_030653.4(DDX11):c.2491G>C (p.Ala831Pro) single nucleotide variant not provided [RCV002305893] Chr12:31103350 [GRCh38]
Chr12:31256284 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.475C>T (p.Arg159Cys) single nucleotide variant Inborn genetic diseases [RCV002687078] Chr12:31084664 [GRCh38]
Chr12:31237598 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1991G>A (p.Cys664Tyr) single nucleotide variant Inborn genetic diseases [RCV002681982] Chr12:31101069 [GRCh38]
Chr12:31254003 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1472A>G (p.Asn491Ser) single nucleotide variant Inborn genetic diseases [RCV002773431] Chr12:31094812 [GRCh38]
Chr12:31247746 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1042C>T (p.Arg348Trp) single nucleotide variant Inborn genetic diseases [RCV002687367] Chr12:31090047 [GRCh38]
Chr12:31242981 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1354G>A (p.Val452Met) single nucleotide variant Inborn genetic diseases [RCV002840316] Chr12:31093309 [GRCh38]
Chr12:31246243 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.700C>T (p.Arg234Trp) single nucleotide variant Inborn genetic diseases [RCV002683529] Chr12:31089059 [GRCh38]
Chr12:31241993 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2279G>A (p.Gly760Asp) single nucleotide variant Inborn genetic diseases [RCV002974778] Chr12:31102434 [GRCh38]
Chr12:31255368 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1288G>C (p.Gly430Arg) single nucleotide variant Inborn genetic diseases [RCV002762252] Chr12:31092891 [GRCh38]
Chr12:31245825 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2641C>T (p.Arg881Cys) single nucleotide variant Inborn genetic diseases [RCV002759718] Chr12:31103681 [GRCh38]
Chr12:31256615 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.295G>A (p.Glu99Lys) single nucleotide variant Inborn genetic diseases [RCV002887670] Chr12:31083963 [GRCh38]
Chr12:31236897 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2626G>T (p.Ala876Ser) single nucleotide variant Inborn genetic diseases [RCV002884286] Chr12:31103666 [GRCh38]
Chr12:31256600 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.233A>G (p.Glu78Gly) single nucleotide variant Inborn genetic diseases [RCV002978146] Chr12:31083901 [GRCh38]
Chr12:31236835 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1448T>A (p.Phe483Tyr) single nucleotide variant Inborn genetic diseases [RCV002799247] Chr12:31094788 [GRCh38]
Chr12:31247722 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1646C>T (p.Ala549Val) single nucleotide variant Inborn genetic diseases [RCV002764961] Chr12:31096874 [GRCh38]
Chr12:31249808 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.428G>A (p.Arg143His) single nucleotide variant Inborn genetic diseases [RCV002712525] Chr12:31084617 [GRCh38]
Chr12:31237551 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1439A>G (p.Asp480Gly) single nucleotide variant Inborn genetic diseases [RCV002931364] Chr12:31094779 [GRCh38]
Chr12:31247713 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1353C>G (p.Phe451Leu) single nucleotide variant Inborn genetic diseases [RCV002712851] Chr12:31093308 [GRCh38]
Chr12:31246242 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2521G>A (p.Val841Ile) single nucleotide variant Inborn genetic diseases [RCV003004209] Chr12:31103380 [GRCh38]
Chr12:31256314 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2122C>T (p.Pro708Ser) single nucleotide variant Inborn genetic diseases [RCV003006664] Chr12:31101902 [GRCh38]
Chr12:31254836 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.856G>A (p.Val286Met) single nucleotide variant Inborn genetic diseases [RCV002873954]|not provided [RCV003395648] Chr12:31089466 [GRCh38]
Chr12:31242400 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2266_2271+4dup duplication Inborn genetic diseases [RCV002915335] Chr12:31102296..31102297 [GRCh38]
Chr12:31255230..31255231 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.953A>G (p.Tyr318Cys) single nucleotide variant Inborn genetic diseases [RCV002697063] Chr12:31089958 [GRCh38]
Chr12:31242892 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1375A>G (p.Ile459Val) single nucleotide variant Inborn genetic diseases [RCV003006619] Chr12:31094595 [GRCh38]
Chr12:31247529 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1843G>T (p.Ala615Ser) single nucleotide variant Inborn genetic diseases [RCV002849897] Chr12:31097965 [GRCh38]
Chr12:31250899 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2474A>G (p.Gln825Arg) single nucleotide variant Inborn genetic diseases [RCV002665958] Chr12:31103333 [GRCh38]
Chr12:31256267 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.969G>A (p.Met323Ile) single nucleotide variant Inborn genetic diseases [RCV002892977] Chr12:31089974 [GRCh38]
Chr12:31242908 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1867A>G (p.Met623Val) single nucleotide variant Inborn genetic diseases [RCV002787521] Chr12:31097989 [GRCh38]
Chr12:31250923 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2516A>G (p.Lys839Arg) single nucleotide variant Inborn genetic diseases [RCV002789600]|not specified [RCV003994521] Chr12:31103375 [GRCh38]
Chr12:31256309 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.499A>G (p.Arg167Gly) single nucleotide variant Inborn genetic diseases [RCV002965219]|not provided [RCV003883924] Chr12:31084987 [GRCh38]
Chr12:31237921 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_030653.4(DDX11):c.1955T>C (p.Val652Ala) single nucleotide variant Inborn genetic diseases [RCV002921359] Chr12:31101033 [GRCh38]
Chr12:31253967 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1696A>G (p.Ile566Val) single nucleotide variant Inborn genetic diseases [RCV002835406] Chr12:31096924 [GRCh38]
Chr12:31249858 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.427C>T (p.Arg143Cys) single nucleotide variant Inborn genetic diseases [RCV002703203] Chr12:31084616 [GRCh38]
Chr12:31237550 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1535C>G (p.Thr512Ser) single nucleotide variant Inborn genetic diseases [RCV002835927] Chr12:31096650 [GRCh38]
Chr12:31249584 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1364T>C (p.Leu455Pro) single nucleotide variant Inborn genetic diseases [RCV002919792] Chr12:31093319 [GRCh38]
Chr12:31246253 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1198G>A (p.Asp400Asn) single nucleotide variant Inborn genetic diseases [RCV003299548] Chr12:31091827 [GRCh38]
Chr12:31244761 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.701G>A (p.Arg234Gln) single nucleotide variant Inborn genetic diseases [RCV003192396] Chr12:31089060 [GRCh38]
Chr12:31241994 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1730A>G (p.Asn577Ser) single nucleotide variant Inborn genetic diseases [RCV003178842] Chr12:31096958 [GRCh38]
Chr12:31249892 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.700C>G (p.Arg234Gly) single nucleotide variant Inborn genetic diseases [RCV003186563] Chr12:31089059 [GRCh38]
Chr12:31241993 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1234G>A (p.Gly412Ser) single nucleotide variant Warsaw breakage syndrome [RCV003146025] Chr12:31091863 [GRCh38]
Chr12:31244797 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2087G>A (p.Cys696Tyr) single nucleotide variant Warsaw breakage syndrome [RCV003146026] Chr12:31101867 [GRCh38]
Chr12:31254801 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.638+1040C>T single nucleotide variant not provided [RCV003222761] Chr12:31086166 [GRCh38]
Chr12:31239100 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1276G>A (p.Val426Met) single nucleotide variant Inborn genetic diseases [RCV003259986] Chr12:31092879 [GRCh38]
Chr12:31245813 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1928G>A (p.Arg643His) single nucleotide variant Inborn genetic diseases [RCV003339353] Chr12:31100687 [GRCh38]
Chr12:31253621 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.137C>G (p.Thr46Ser) single nucleotide variant Inborn genetic diseases [RCV003384823] Chr12:31078530 [GRCh38]
Chr12:31231464 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2007C>A (p.Asn669Lys) single nucleotide variant Inborn genetic diseases [RCV003376502] Chr12:31101085 [GRCh38]
Chr12:31254019 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1430C>A (p.Thr477Asn) single nucleotide variant Inborn genetic diseases [RCV003370077] Chr12:31094770 [GRCh38]
Chr12:31247704 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1438G>A (p.Asp480Asn) single nucleotide variant Inborn genetic diseases [RCV003353963] Chr12:31094778 [GRCh38]
Chr12:31247712 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1577A>G (p.Lys526Arg) single nucleotide variant Inborn genetic diseases [RCV003375115] Chr12:31096692 [GRCh38]
Chr12:31249626 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.963G>A (p.Glu321=) single nucleotide variant not provided [RCV003391682] Chr12:31089968 [GRCh38]
Chr12:31242902 [GRCh37]
Chr12:12p11.21
likely benign
Single allele duplication not provided [RCV003222762] Chr12:31125560..31125561 [GRCh38]
Chr12:31278494..31278495 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.*17T>G single nucleotide variant not provided [RCV003391687] Chr12:31103853 [GRCh38]
Chr12:31256787 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.*137C>A single nucleotide variant not provided [RCV003391688] Chr12:31103973 [GRCh38]
Chr12:31256907 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.1875+290T>C single nucleotide variant not provided [RCV003391686] Chr12:31098287 [GRCh38]
Chr12:31251221 [GRCh37]
Chr12:12p11.21
benign
NM_030653.4(DDX11):c.1840C>T (p.Arg614Trp) single nucleotide variant not provided [RCV003391685] Chr12:31097962 [GRCh38]
Chr12:31250896 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1437C>T (p.Asn479=) single nucleotide variant not provided [RCV003391684] Chr12:31094777 [GRCh38]
Chr12:31247711 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1221C>T (p.Ser407=) single nucleotide variant not provided [RCV003391683] Chr12:31091850 [GRCh38]
Chr12:31244784 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.906G>A (p.Glu302=) single nucleotide variant not provided [RCV003391681] Chr12:31089911 [GRCh38]
Chr12:31242845 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.633G>A (p.Ala211=) single nucleotide variant not provided [RCV003390200] Chr12:31085121 [GRCh38]
Chr12:31238055 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.792+1G>A single nucleotide variant Warsaw breakage syndrome [RCV003405145] Chr12:31089152 [GRCh38]
Chr12:31242086 [GRCh37]
Chr12:12p11.21
likely pathogenic
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_030653.4(DDX11):c.1027C>T (p.Leu343Phe) single nucleotide variant Inborn genetic diseases [RCV004375668] Chr12:31090032 [GRCh38]
Chr12:31242966 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1211G>T (p.Gly404Val) single nucleotide variant Inborn genetic diseases [RCV004375671] Chr12:31091840 [GRCh38]
Chr12:31244774 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1466A>G (p.Asn489Ser) single nucleotide variant Inborn genetic diseases [RCV004375676] Chr12:31094806 [GRCh38]
Chr12:31247740 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1622C>T (p.Thr541Met) single nucleotide variant Inborn genetic diseases [RCV004375677] Chr12:31096737 [GRCh38]
Chr12:31249671 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2068C>T (p.Arg690Cys) single nucleotide variant Inborn genetic diseases [RCV004375681] Chr12:31101848 [GRCh38]
Chr12:31254782 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2460C>G (p.Pro820=) single nucleotide variant Inborn genetic diseases [RCV004375682] Chr12:31103319 [GRCh38]
Chr12:31256253 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2481C>G (p.Pro827=) single nucleotide variant Inborn genetic diseases [RCV004375684] Chr12:31103340 [GRCh38]
Chr12:31256274 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2698C>T (p.Arg900Trp) single nucleotide variant Inborn genetic diseases [RCV004375687] Chr12:31103813 [GRCh38]
Chr12:31256747 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.784T>A (p.Ser262Thr) single nucleotide variant Inborn genetic diseases [RCV004375695] Chr12:31089143 [GRCh38]
Chr12:31242077 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.263A>G (p.Lys88Arg) single nucleotide variant Inborn genetic diseases [RCV004375686] Chr12:31083931 [GRCh38]
Chr12:31236865 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1087C>A (p.Gln363Lys) single nucleotide variant Inborn genetic diseases [RCV004375670] Chr12:31090092 [GRCh38]
Chr12:31243026 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.164T>C (p.Ile55Thr) single nucleotide variant Inborn genetic diseases [RCV004375678] Chr12:31083832 [GRCh38]
Chr12:31236766 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2062G>C (p.Val688Leu) single nucleotide variant Inborn genetic diseases [RCV004375680] Chr12:31101842 [GRCh38]
Chr12:31254776 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.296A>G (p.Glu99Gly) single nucleotide variant Inborn genetic diseases [RCV004375688] Chr12:31083964 [GRCh38]
Chr12:31236898 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.476G>A (p.Arg159His) single nucleotide variant Inborn genetic diseases [RCV004375690] Chr12:31084665 [GRCh38]
Chr12:31237599 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.593T>G (p.Val198Gly) single nucleotide variant Inborn genetic diseases [RCV004375691] Chr12:31085081 [GRCh38]
Chr12:31238015 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.59A>G (p.Tyr20Cys) single nucleotide variant Inborn genetic diseases [RCV004375692] Chr12:31078452 [GRCh38]
Chr12:31231386 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.632C>T (p.Ala211Val) single nucleotide variant Inborn genetic diseases [RCV004375693] Chr12:31085120 [GRCh38]
Chr12:31238054 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.658G>A (p.Asp220Asn) single nucleotide variant Inborn genetic diseases [RCV004375694] Chr12:31087957 [GRCh38]
Chr12:31240891 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1069C>G (p.Leu357Val) single nucleotide variant Inborn genetic diseases [RCV004375669] Chr12:31090074 [GRCh38]
Chr12:31243008 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1341G>T (p.Leu447Phe) single nucleotide variant Inborn genetic diseases [RCV004375672] Chr12:31093296 [GRCh38]
Chr12:31246230 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1360G>T (p.Val454Leu) single nucleotide variant Inborn genetic diseases [RCV004375673] Chr12:31093315 [GRCh38]
Chr12:31246249 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.1641C>T (p.Ala547=) single nucleotide variant not provided [RCV003887015] Chr12:31096869 [GRCh38]
Chr12:31249803 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.546G>A (p.Pro182=) single nucleotide variant not provided [RCV003885285] Chr12:31085034 [GRCh38]
Chr12:31237968 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.1459A>G (p.Ile487Val) single nucleotide variant Inborn genetic diseases [RCV004375675] Chr12:31094799 [GRCh38]
Chr12:31247733 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.2460C>T (p.Pro820=) single nucleotide variant Inborn genetic diseases [RCV004375683] Chr12:31103319 [GRCh38]
Chr12:31256253 [GRCh37]
Chr12:12p11.21
likely benign
NM_030653.4(DDX11):c.2482C>T (p.Pro828Ser) single nucleotide variant Inborn genetic diseases [RCV004375685] Chr12:31103341 [GRCh38]
Chr12:31256275 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_030653.4(DDX11):c.827G>A (p.Gly276Asp) single nucleotide variant Inborn genetic diseases [RCV004375696] Chr12:31089437 [GRCh38]
Chr12:31242371 [GRCh37]
Chr12:12p11.21
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:13842
Count of miRNA genes:1256
Interacting mature miRNAs:1678
Transcripts:ENST00000228264, ENST00000251758, ENST00000350437, ENST00000407793, ENST00000415475, ENST00000435753, ENST00000438391, ENST00000535158, ENST00000535317, ENST00000536265, ENST00000536580, ENST00000537136, ENST00000538345, ENST00000538740, ENST00000539049, ENST00000539673, ENST00000539699, ENST00000539702, ENST00000540935, ENST00000542129, ENST00000542242, ENST00000542244, ENST00000542661, ENST00000542777, ENST00000542838, ENST00000543026, ENST00000543511, ENST00000543756, ENST00000544652, ENST00000545115, ENST00000545668, ENST00000545717
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.

Markers in Region
ECD03348  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q13UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic MapYq12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p11UniSTS
RH65252  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12p11UniSTS
Cytogenetic Map12p13.31UniSTS
RH80562  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12p11UniSTS
Cytogenetic Map12p13.31UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1283 564 813 152 870 68 2185 585 1121 130 1177 1059 98 466 1257 3
Low 1155 2377 910 470 1045 395 2168 1601 2524 287 282 551 77 1 738 1530 3 2
Below cutoff 46 3 2 36 2 2 11 87 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_429031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC148224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ786287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U33833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000228264   ⟹   ENSP00000228264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,860 - 31,104,791 (+)Ensembl
RefSeq Acc Id: ENST00000350437   ⟹   ENSP00000309965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,898 - 31,104,791 (+)Ensembl
RefSeq Acc Id: ENST00000415475   ⟹   ENSP00000406457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,892 - 31,089,111 (+)Ensembl
RefSeq Acc Id: ENST00000435753   ⟹   ENSP00000406799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,876 - 31,104,791 (+)Ensembl
RefSeq Acc Id: ENST00000438391   ⟹   ENSP00000407646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,868 - 31,089,999 (+)Ensembl
RefSeq Acc Id: ENST00000535158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,902 - 31,089,883 (+)Ensembl
RefSeq Acc Id: ENST00000535317   ⟹   ENSP00000440171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,074,264 - 31,084,656 (+)Ensembl
RefSeq Acc Id: ENST00000536265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,891 - 31,104,136 (+)Ensembl
RefSeq Acc Id: ENST00000536580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,091,553 - 31,096,989 (+)Ensembl
RefSeq Acc Id: ENST00000537136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,102,214 - 31,103,218 (+)Ensembl
RefSeq Acc Id: ENST00000538345   ⟹   ENSP00000445219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,083,828 - 31,103,864 (+)Ensembl
RefSeq Acc Id: ENST00000538740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,100,407 - 31,101,475 (+)Ensembl
RefSeq Acc Id: ENST00000539049   ⟹   ENSP00000445568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,882 - 31,104,791 (+)Ensembl
RefSeq Acc Id: ENST00000539673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,092,862 - 31,100,594 (+)Ensembl
RefSeq Acc Id: ENST00000539699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,096,635 - 31,100,847 (+)Ensembl
RefSeq Acc Id: ENST00000539702   ⟹   ENSP00000441015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,102,268 - 31,104,269 (+)Ensembl
RefSeq Acc Id: ENST00000540935   ⟹   ENSP00000443578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,879 - 31,091,771 (+)Ensembl
RefSeq Acc Id: ENST00000542129   ⟹   ENSP00000442466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,860 - 31,094,633 (+)Ensembl
RefSeq Acc Id: ENST00000542242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,087,576 - 31,089,681 (+)Ensembl
RefSeq Acc Id: ENST00000542244   ⟹   ENSP00000441425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,074,220 - 31,089,618 (+)Ensembl
RefSeq Acc Id: ENST00000542661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,096,914 - 31,102,729 (+)Ensembl
RefSeq Acc Id: ENST00000542777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,101,513 - 31,102,261 (+)Ensembl
RefSeq Acc Id: ENST00000542838   ⟹   ENSP00000443426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,860 - 31,104,799 (+)Ensembl
RefSeq Acc Id: ENST00000543026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,087,645 - 31,093,720 (+)Ensembl
RefSeq Acc Id: ENST00000543511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,094,295 - 31,096,873 (+)Ensembl
RefSeq Acc Id: ENST00000543756   ⟹   ENSP00000439298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,909 - 31,085,068 (+)Ensembl
RefSeq Acc Id: ENST00000544652   ⟹   ENSP00000473610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,078,520 - 31,089,130 (+)Ensembl
RefSeq Acc Id: ENST00000545115   ⟹   ENSP00000443750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,102,268 - 31,104,005 (+)Ensembl
RefSeq Acc Id: ENST00000545668   ⟹   ENSP00000440402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,073,894 - 31,104,791 (+)Ensembl
RefSeq Acc Id: ENST00000545717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1231,089,069 - 31,091,273 (+)Ensembl
RefSeq Acc Id: NM_001257144   ⟹   NP_001244073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
GRCh371231,226,779 - 31,257,733 (+)NCBI
HuRef1230,992,012 - 31,022,870 (+)NCBI
CHM1_11231,191,725 - 31,222,687 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257145   ⟹   NP_001244074
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
GRCh371231,226,779 - 31,257,733 (+)NCBI
HuRef1230,992,012 - 31,022,870 (+)NCBI
CHM1_11231,191,725 - 31,222,687 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001413692   ⟹   NP_001400621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413693   ⟹   NP_001400622
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413694   ⟹   NP_001400623
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,759 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413695   ⟹   NP_001400624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,759 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413696   ⟹   NP_001400625
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,759 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413697   ⟹   NP_001400626
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413698   ⟹   NP_001400627
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,759 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413699   ⟹   NP_001400628
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413700   ⟹   NP_001400629
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413702   ⟹   NP_001400631
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413703   ⟹   NP_001400632
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,759 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413704   ⟹   NP_001400633
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413705   ⟹   NP_001400634
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_001413706   ⟹   NP_001400635
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: NM_004399   ⟹   NP_004390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
GRCh371231,226,779 - 31,257,733 (+)NCBI
Build 361231,118,046 - 31,148,992 (+)NCBI Archive
HuRef1230,992,012 - 31,022,870 (+)ENTREZGENE
CHM1_11231,191,725 - 31,222,687 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030653   ⟹   NP_085911
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
GRCh371231,226,779 - 31,257,733 (+)NCBI
Build 361231,118,046 - 31,148,992 (+)NCBI Archive
HuRef1230,992,012 - 31,022,870 (+)ENTREZGENE
CHM1_11231,191,725 - 31,222,687 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152438   ⟹   NP_689651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
GRCh371231,226,779 - 31,257,733 (+)NCBI
Build 361231,118,046 - 31,148,992 (+)NCBI Archive
HuRef1230,992,012 - 31,022,870 (+)ENTREZGENE
CHM1_11231,191,725 - 31,222,687 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
Sequence:
RefSeq Acc Id: NR_182200
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: NR_182201
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: NR_182202
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: NR_182203
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
T2T-CHM13v2.01230,948,354 - 30,979,293 (+)NCBI
RefSeq Acc Id: XM_005253331   ⟹   XP_005253388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
GRCh371231,226,779 - 31,257,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005253333   ⟹   XP_005253390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
GRCh371231,226,779 - 31,257,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719050   ⟹   XP_006719113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520592   ⟹   XP_011518894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520595   ⟹   XP_011518897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520597   ⟹   XP_011518899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,100,650 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018919   ⟹   XP_016874408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018920   ⟹   XP_016874409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018921   ⟹   XP_016874410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018922   ⟹   XP_016874411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,860 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018925   ⟹   XP_016874414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018926   ⟹   XP_016874415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018927   ⟹   XP_016874416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018928   ⟹   XP_016874417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018929   ⟹   XP_016874418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018930   ⟹   XP_016874419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018935   ⟹   XP_016874424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,084,585 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018936   ⟹   XP_016874425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,085,133 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018937   ⟹   XP_016874426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,086,226 - 31,104,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018938   ⟹   XP_016874427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,102,516 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018939   ⟹   XP_016874428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,102,516 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428447   ⟹   XP_047284403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428448   ⟹   XP_047284404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428449   ⟹   XP_047284405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428451   ⟹   XP_047284407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428452   ⟹   XP_047284408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428453   ⟹   XP_047284409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428454   ⟹   XP_047284410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428455   ⟹   XP_047284411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428456   ⟹   XP_047284412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428457   ⟹   XP_047284413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428458   ⟹   XP_047284414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,103,689 (+)NCBI
RefSeq Acc Id: XM_047428459   ⟹   XP_047284415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428460   ⟹   XP_047284416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428461   ⟹   XP_047284417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428462   ⟹   XP_047284418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,085,002 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_047428463   ⟹   XP_047284419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,101,956 (+)NCBI
RefSeq Acc Id: XM_047428464   ⟹   XP_047284420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,101,130 (+)NCBI
RefSeq Acc Id: XM_047428465   ⟹   XP_047284421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,085,133 - 31,104,799 (+)NCBI
RefSeq Acc Id: XM_054371309   ⟹   XP_054227284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,684 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371310   ⟹   XP_054227285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,684 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371311   ⟹   XP_054227286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,684 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371312   ⟹   XP_054227287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,949,056 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371313   ⟹   XP_054227288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,690 - 30,979,293 (+)NCBI
RefSeq Acc Id: XM_054371314   ⟹   XP_054227289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,690 - 30,979,293 (+)NCBI
RefSeq Acc Id: XM_054371315   ⟹   XP_054227290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,828 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371316   ⟹   XP_054227291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,949,056 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371317   ⟹   XP_054227292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,689 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371318   ⟹   XP_054227293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,689 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371319   ⟹   XP_054227294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,689 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371320   ⟹   XP_054227295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,949,056 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371321   ⟹   XP_054227296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,694 - 30,979,293 (+)NCBI
RefSeq Acc Id: XM_054371322   ⟹   XP_054227297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,694 - 30,979,293 (+)NCBI
RefSeq Acc Id: XM_054371323   ⟹   XP_054227298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,694 - 30,979,293 (+)NCBI
RefSeq Acc Id: XM_054371324   ⟹   XP_054227299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,949,057 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371325   ⟹   XP_054227300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,689 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371326   ⟹   XP_054227301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,949,057 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371327   ⟹   XP_054227302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,949,057 - 30,978,183 (+)NCBI
RefSeq Acc Id: XM_054371328   ⟹   XP_054227303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,948,354 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371329   ⟹   XP_054227304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,959,496 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371330   ⟹   XP_054227305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,949,055 - 30,975,330 (+)NCBI
RefSeq Acc Id: XM_054371331   ⟹   XP_054227306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,949,056 - 30,975,624 (+)NCBI
RefSeq Acc Id: XM_054371332   ⟹   XP_054227307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,959,079 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371333   ⟹   XP_054227308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,960,716 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371334   ⟹   XP_054227309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,959,627 - 30,979,285 (+)NCBI
RefSeq Acc Id: XM_054371335   ⟹   XP_054227310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,949,057 - 30,975,144 (+)NCBI
RefSeq Acc Id: XM_054371336   ⟹   XP_054227311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,959,627 - 30,979,285 (+)NCBI
RefSeq Acc Id: XR_001748610
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,103,020 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007063056
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,103,020 (+)NCBI
RefSeq Acc Id: XR_007063057
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,102,473 (+)NCBI
RefSeq Acc Id: XR_007063058
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,078,220 - 31,102,473 (+)NCBI
RefSeq Acc Id: XR_008488549
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,949,057 - 30,977,514 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001244073 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244074 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400621 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400622 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400623 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400624 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400625 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400626 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400627 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400628 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400629 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400631 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400632 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400633 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400634 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400635 (Get FASTA)   NCBI Sequence Viewer  
  NP_004390 (Get FASTA)   NCBI Sequence Viewer  
  NP_085911 (Get FASTA)   NCBI Sequence Viewer  
  NP_689651 (Get FASTA)   NCBI Sequence Viewer  
  XP_005253388 (Get FASTA)   NCBI Sequence Viewer  
  XP_005253390 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719113 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518894 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518897 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518899 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874408 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874409 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874410 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874411 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874414 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874415 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874416 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874417 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874418 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874419 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874424 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874425 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874426 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874427 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874428 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284403 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284404 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284405 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284407 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284408 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284409 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284410 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284411 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284412 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284413 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284414 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284415 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284416 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284417 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284418 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284419 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284420 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284421 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227284 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227288 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227289 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227290 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227291 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227292 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227293 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227294 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227295 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227296 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227297 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227298 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227299 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227300 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227301 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227302 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227303 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227304 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227305 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227306 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227307 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227308 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227309 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227310 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227311 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA99060 (Get FASTA)   NCBI Sequence Viewer  
  AAB06962 (Get FASTA)   NCBI Sequence Viewer  
  AAB18749 (Get FASTA)   NCBI Sequence Viewer  
  AAB18750 (Get FASTA)   NCBI Sequence Viewer  
  AAB18751 (Get FASTA)   NCBI Sequence Viewer  
  AAH50069 (Get FASTA)   NCBI Sequence Viewer  
  AAH50522 (Get FASTA)   NCBI Sequence Viewer  
  AAI11734 (Get FASTA)   NCBI Sequence Viewer  
  BAG59990 (Get FASTA)   NCBI Sequence Viewer  
  BAG64243 (Get FASTA)   NCBI Sequence Viewer  
  CAA67895 (Get FASTA)   NCBI Sequence Viewer  
  EAW88576 (Get FASTA)   NCBI Sequence Viewer  
  EAW88577 (Get FASTA)   NCBI Sequence Viewer  
  EAW88578 (Get FASTA)   NCBI Sequence Viewer  
  EAW88579 (Get FASTA)   NCBI Sequence Viewer  
  EAW88580 (Get FASTA)   NCBI Sequence Viewer  
  EAW88581 (Get FASTA)   NCBI Sequence Viewer  
  EAW88582 (Get FASTA)   NCBI Sequence Viewer  
  EAW88583 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000228264
  ENSP00000228264.6
  ENSP00000309965
  ENSP00000309965.5
  ENSP00000406457.2
  ENSP00000406799.2
  ENSP00000407646.2
  ENSP00000439298.1
  ENSP00000440171.1
  ENSP00000440402
  ENSP00000440402.1
  ENSP00000441015.1
  ENSP00000441425.1
  ENSP00000442466.1
  ENSP00000443426
  ENSP00000443426.1
  ENSP00000443578.1
  ENSP00000443750.1
  ENSP00000445219.1
  ENSP00000445568.1
  ENSP00000473610.1
GenBank Protein Q96FC9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_085911   ⟸   NM_030653
- Peptide Label: isoform 1
- UniProtKB: Q2NKM7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_689651   ⟸   NM_152438
- Peptide Label: isoform 3
- UniProtKB: Q92998 (UniProtKB/Swiss-Prot),   Q92770 (UniProtKB/Swiss-Prot),   Q92498 (UniProtKB/Swiss-Prot),   Q86W62 (UniProtKB/Swiss-Prot),   Q86VQ4 (UniProtKB/Swiss-Prot),   Q13333 (UniProtKB/Swiss-Prot),   Q92999 (UniProtKB/Swiss-Prot),   Q96FC9 (UniProtKB/Swiss-Prot),   Q2NKM7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004390   ⟸   NM_004399
- Peptide Label: isoform 2
- UniProtKB: Q2NKM7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244073   ⟸   NM_001257144
- Peptide Label: isoform 3
- UniProtKB: Q92998 (UniProtKB/Swiss-Prot),   Q92770 (UniProtKB/Swiss-Prot),   Q92498 (UniProtKB/Swiss-Prot),   Q86W62 (UniProtKB/Swiss-Prot),   Q86VQ4 (UniProtKB/Swiss-Prot),   Q13333 (UniProtKB/Swiss-Prot),   Q92999 (UniProtKB/Swiss-Prot),   Q96FC9 (UniProtKB/Swiss-Prot),   Q2NKM7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244074   ⟸   NM_001257145
- Peptide Label: isoform 4
- UniProtKB: Q2NKM7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005253388   ⟸   XM_005253331
- Peptide Label: isoform X12
- UniProtKB: Q2NKM7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005253390   ⟸   XM_005253333
- Peptide Label: isoform X16
- UniProtKB: Q2NKM7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006719113   ⟸   XM_006719050
- Peptide Label: isoform X14
- UniProtKB: Q2NKM7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011518894   ⟸   XM_011520592
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011518899   ⟸   XM_011520597
- Peptide Label: isoform X31
- Sequence:
RefSeq Acc Id: XP_011518897   ⟸   XM_011520595
- Peptide Label: isoform X22
- UniProtKB: Q2NKM7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874411   ⟸   XM_017018922
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016874408   ⟸   XM_017018919
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016874414   ⟸   XM_017018925
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016874418   ⟸   XM_017018929
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016874409   ⟸   XM_017018920
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016874415   ⟸   XM_017018926
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016874416   ⟸   XM_017018927
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016874417   ⟸   XM_017018928
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016874410   ⟸   XM_017018921
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016874419   ⟸   XM_017018930
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016874427   ⟸   XM_017018938
- Peptide Label: isoform X28
- Sequence:
RefSeq Acc Id: XP_016874428   ⟸   XM_017018939
- Peptide Label: isoform X29
- Sequence:
RefSeq Acc Id: XP_016874424   ⟸   XM_017018935
- Peptide Label: isoform X26
- Sequence:
RefSeq Acc Id: XP_016874425   ⟸   XM_017018936
- Peptide Label: isoform X26
- Sequence:
RefSeq Acc Id: XP_016874426   ⟸   XM_017018937
- Peptide Label: isoform X26
- Sequence:
RefSeq Acc Id: ENSP00000407646   ⟸   ENST00000438391
RefSeq Acc Id: ENSP00000443426   ⟸   ENST00000542838
RefSeq Acc Id: ENSP00000441425   ⟸   ENST00000542244
RefSeq Acc Id: ENSP00000442466   ⟸   ENST00000542129
RefSeq Acc Id: ENSP00000228264   ⟸   ENST00000228264
RefSeq Acc Id: ENSP00000439298   ⟸   ENST00000543756
RefSeq Acc Id: ENSP00000473610   ⟸   ENST00000544652
RefSeq Acc Id: ENSP00000443750   ⟸   ENST00000545115
RefSeq Acc Id: ENSP00000440402   ⟸   ENST00000545668
RefSeq Acc Id: ENSP00000406457   ⟸   ENST00000415475
RefSeq Acc Id: ENSP00000440171   ⟸   ENST00000535317
RefSeq Acc Id: ENSP00000309965   ⟸   ENST00000350437
RefSeq Acc Id: ENSP00000445219   ⟸   ENST00000538345
RefSeq Acc Id: ENSP00000445568   ⟸   ENST00000539049
RefSeq Acc Id: ENSP00000441015   ⟸   ENST00000539702
RefSeq Acc Id: ENSP00000406799   ⟸   ENST00000435753
RefSeq Acc Id: ENSP00000443578   ⟸   ENST00000540935
RefSeq Acc Id: XP_047284403   ⟸   XM_047428447
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047284408   ⟸   XM_047428452
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047284410   ⟸   XM_047428454
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047284404   ⟸   XM_047428448
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047284417   ⟸   XM_047428461
- Peptide Label: isoform X24
RefSeq Acc Id: XP_047284407   ⟸   XM_047428451
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047284409   ⟸   XM_047428453
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047284405   ⟸   XM_047428449
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047284415   ⟸   XM_047428459
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047284411   ⟸   XM_047428455
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047284413   ⟸   XM_047428457
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047284416   ⟸   XM_047428460
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047284412   ⟸   XM_047428456
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047284414   ⟸   XM_047428458
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047284419   ⟸   XM_047428463
- Peptide Label: isoform X27
RefSeq Acc Id: XP_047284420   ⟸   XM_047428464
- Peptide Label: isoform X30
RefSeq Acc Id: XP_047284418   ⟸   XM_047428462
- Peptide Label: isoform X25
RefSeq Acc Id: XP_047284421   ⟸   XM_047428465
- Peptide Label: isoform X32
RefSeq Acc Id: NP_001400622   ⟸   NM_001413693
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001400634   ⟸   NM_001413705
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001400633   ⟸   NM_001413704
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001400635   ⟸   NM_001413706
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001400629   ⟸   NM_001413700
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001400631   ⟸   NM_001413702
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001400626   ⟸   NM_001413697
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001400628   ⟸   NM_001413699
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001400621   ⟸   NM_001413692
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001400624   ⟸   NM_001413695
- Peptide Label: isoform 3
- UniProtKB: Q96FC9 (UniProtKB/Swiss-Prot),   Q92998 (UniProtKB/Swiss-Prot),   Q92770 (UniProtKB/Swiss-Prot),   Q92498 (UniProtKB/Swiss-Prot),   Q86W62 (UniProtKB/Swiss-Prot),   Q86VQ4 (UniProtKB/Swiss-Prot),   Q13333 (UniProtKB/Swiss-Prot),   Q92999 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001400623   ⟸   NM_001413694
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001400625   ⟸   NM_001413696
- Peptide Label: isoform 3
- UniProtKB: Q96FC9 (UniProtKB/Swiss-Prot),   Q92998 (UniProtKB/Swiss-Prot),   Q92770 (UniProtKB/Swiss-Prot),   Q92498 (UniProtKB/Swiss-Prot),   Q86W62 (UniProtKB/Swiss-Prot),   Q86VQ4 (UniProtKB/Swiss-Prot),   Q13333 (UniProtKB/Swiss-Prot),   Q92999 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001400627   ⟸   NM_001413698
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001400632   ⟸   NM_001413703
- Peptide Label: isoform 7
RefSeq Acc Id: XP_054227303   ⟸   XM_054371328
- Peptide Label: isoform X34
RefSeq Acc Id: XP_054227284   ⟸   XM_054371309
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054227286   ⟸   XM_054371311
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054227285   ⟸   XM_054371310
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054227292   ⟸   XM_054371317
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054227294   ⟸   XM_054371319
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054227300   ⟸   XM_054371325
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054227293   ⟸   XM_054371318
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054227288   ⟸   XM_054371313
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054227289   ⟸   XM_054371314
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054227296   ⟸   XM_054371321
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054227298   ⟸   XM_054371323
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054227297   ⟸   XM_054371322
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054227290   ⟸   XM_054371315
- Peptide Label: isoform X34
RefSeq Acc Id: XP_054227305   ⟸   XM_054371330
- Peptide Label: isoform X41
RefSeq Acc Id: XP_054227295   ⟸   XM_054371320
- Peptide Label: isoform X36
RefSeq Acc Id: XP_054227287   ⟸   XM_054371312
- Peptide Label: isoform X33
RefSeq Acc Id: XP_054227291   ⟸   XM_054371316
- Peptide Label: isoform X35
RefSeq Acc Id: XP_054227306   ⟸   XM_054371331
- Peptide Label: isoform X42
RefSeq Acc Id: XP_054227299   ⟸   XM_054371324
- Peptide Label: isoform X37
RefSeq Acc Id: XP_054227301   ⟸   XM_054371326
- Peptide Label: isoform X38
RefSeq Acc Id: XP_054227302   ⟸   XM_054371327
- Peptide Label: isoform X39
RefSeq Acc Id: XP_054227310   ⟸   XM_054371335
- Peptide Label: isoform X44
RefSeq Acc Id: XP_054227307   ⟸   XM_054371332
- Peptide Label: isoform X43
RefSeq Acc Id: XP_054227304   ⟸   XM_054371329
- Peptide Label: isoform X40
RefSeq Acc Id: XP_054227311   ⟸   XM_054371336
- Peptide Label: isoform X32
RefSeq Acc Id: XP_054227309   ⟸   XM_054371334
- Peptide Label: isoform X43
RefSeq Acc Id: XP_054227308   ⟸   XM_054371333
- Peptide Label: isoform X43
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96FC9-F1-model_v2 AlphaFold Q96FC9 1-970 view protein structure

Promoters
RGD ID:7223557
Promoter ID:EPDNEW_H17524
Type:initiation region
Name:DDX11_3
Description:DEAD/H-box helicase 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17525  EPDNEW_H17526  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,300 - 31,073,360EPDNEW
RGD ID:7223559
Promoter ID:EPDNEW_H17525
Type:initiation region
Name:DDX11_1
Description:DEAD/H-box helicase 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17524  EPDNEW_H17526  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,073,863 - 31,073,923EPDNEW
RGD ID:7223563
Promoter ID:EPDNEW_H17526
Type:initiation region
Name:DDX11_2
Description:DEAD/H-box helicase 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17524  EPDNEW_H17525  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381231,074,265 - 31,074,325EPDNEW
RGD ID:6790598
Promoter ID:HG_KWN:15291
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000251758,   ENST00000404673,   ENST00000407793,   NM_004399,   NM_030653,   NM_152438,   UC001RJQ.1,   UC001RJU.1,   UC001RJV.1,   UC001RJW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361231,117,881 - 31,118,532 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2736 AgrOrtholog
COSMIC DDX11 COSMIC
Ensembl Genes ENSG00000013573 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000228264 ENTREZGENE
  ENST00000228264.10 UniProtKB/Swiss-Prot
  ENST00000350437 ENTREZGENE
  ENST00000350437.8 UniProtKB/Swiss-Prot
  ENST00000415475.6 UniProtKB/TrEMBL
  ENST00000435753 ENTREZGENE
  ENST00000435753.6 UniProtKB/Swiss-Prot
  ENST00000438391.6 UniProtKB/TrEMBL
  ENST00000535317.5 UniProtKB/TrEMBL
  ENST00000538345.1 UniProtKB/TrEMBL
  ENST00000539049 ENTREZGENE
  ENST00000539049.5 UniProtKB/TrEMBL
  ENST00000539702.1 UniProtKB/TrEMBL
  ENST00000540935.5 UniProtKB/TrEMBL
  ENST00000542129.5 UniProtKB/TrEMBL
  ENST00000542244.5 UniProtKB/TrEMBL
  ENST00000542838 ENTREZGENE
  ENST00000542838.6 UniProtKB/Swiss-Prot
  ENST00000543756.5 UniProtKB/TrEMBL
  ENST00000544652.1 UniProtKB/TrEMBL
  ENST00000545115.5 UniProtKB/TrEMBL
  ENST00000545668 ENTREZGENE
  ENST00000545668.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000013573 GTEx
HGNC ID HGNC:2736 ENTREZGENE
Human Proteome Map DDX11 Human Proteome Map
InterPro ATP-dep_Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEAD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DinG/Rad3-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helic_SF1/SF2_ATP-bd_DinG/Rad3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase-like_DEXD_c2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rad3/Chl1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1663 UniProtKB/Swiss-Prot
NCBI Gene 1663 ENTREZGENE
OMIM 601150 OMIM
PANTHER PTHR11472 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11472:SF41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DEAD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27201 PharmGKB
PROSITE HELICASE_ATP_BIND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DMS8_HUMAN UniProtKB/TrEMBL
  C9K0E8_HUMAN UniProtKB/TrEMBL
  DDX11_HUMAN UniProtKB/Swiss-Prot
  F5GXJ8_HUMAN UniProtKB/TrEMBL
  F5GXL6_HUMAN UniProtKB/TrEMBL
  F5GYY1_HUMAN UniProtKB/TrEMBL
  F5H235_HUMAN UniProtKB/TrEMBL
  F5H2V9_HUMAN UniProtKB/TrEMBL
  F6WZM0_HUMAN UniProtKB/TrEMBL
  H0YFY8_HUMAN UniProtKB/TrEMBL
  H0YGL4_HUMAN UniProtKB/TrEMBL
  H0YGX9_HUMAN UniProtKB/TrEMBL
  Q13333 ENTREZGENE
  Q2NKM7 ENTREZGENE, UniProtKB/TrEMBL
  Q86VQ4 ENTREZGENE
  Q86W62 ENTREZGENE
  Q92498 ENTREZGENE
  Q92770 ENTREZGENE
  Q92998 ENTREZGENE
  Q92999 ENTREZGENE
  Q96FC9 ENTREZGENE
  R4GNE1_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q13333 UniProtKB/Swiss-Prot
  Q86VQ4 UniProtKB/Swiss-Prot
  Q86W62 UniProtKB/Swiss-Prot
  Q92498 UniProtKB/Swiss-Prot
  Q92770 UniProtKB/Swiss-Prot
  Q92998 UniProtKB/Swiss-Prot
  Q92999 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 DDX11  DEAD/H-box helicase 11  DDX11  DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11  Symbol and/or name change 5135510 APPROVED
2012-03-01 DDX11  DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11  DDX11  DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11  Symbol and/or name change 5135510 APPROVED
2011-07-27 DDX11  DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11  DDX11  DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)  Symbol and/or name change 5135510 APPROVED