DHX30 (DExH-box helicase 30) - Rat Genome Database

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Gene: DHX30 (DExH-box helicase 30) Homo sapiens
Analyze
Symbol: DHX30
Name: DExH-box helicase 30
RGD ID: 1318916
HGNC Page HGNC:16716
Description: Enables RNA helicase activity; chromatin binding activity; and double-stranded RNA binding activity. Involved in mitochondrial large ribosomal subunit assembly. Located in cytosol; mitochondrial nucleoid; and ribonucleoprotein granule.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-dependent RNA helicase DHX30; DDX30; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30; DEAH (Asp-Glu-Ala-His) box helicase 30; DEAH (Asp-Glu-Ala-His) box polypeptide 30; DEAH box protein 30; DEAH-box helicase 30; FLJ11214; KIAA0890; NEDMIAL; putative ATP-dependent RNA helicase DHX30; RETCOR; retina co-repressor
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
GRCh38347,803,138 - 47,850,193 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl347,802,909 - 47,850,195 (+)EnsemblGRCh38hg38GRCh38
GRCh37347,844,628 - 47,891,683 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36347,819,655 - 47,866,687 (+)NCBINCBI36Build 36hg18NCBI36
Build 34347,819,654 - 47,866,686NCBI
Celera347,794,449 - 47,841,545 (+)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef347,899,640 - 47,947,043 (+)NCBIHuRef
CHM1_1347,795,669 - 47,842,932 (+)NCBICHM1_1
T2T-CHM13v2.0347,830,461 - 47,877,524 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Absent speech  (IAGP)
Ataxia  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Axial hypotonia  (IAGP)
Broad palm  (IAGP)
Broad thumb  (IAGP)
Bruxism  (IAGP)
Cafe-au-lait spot  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Chorea  (IAGP)
Delayed ability to walk  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hirsutism  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Involuntary movements  (IAGP)
Joint hypermobility  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Motor delay  (IAGP)
Oculomotor apraxia  (IAGP)
Open mouth  (IAGP)
Persistent head lag  (IAGP)
Pes planus  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent crus of helix  (IAGP)
Prominent fingertip pads  (IAGP)
Protruding tongue  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Sleep abnormality  (IAGP)
Small face  (IAGP)
Smooth philtrum  (IAGP)
Stereotypical hand wringing  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Tapered finger  (IAGP)
Thin eyebrow  (IAGP)
Thin skin  (IAGP)
Unsteady gait  (IAGP)
Upper eyelid edema  (IAGP)
Ventriculomegaly  (IAGP)
Widow's peak  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10048485   PMID:12477932   PMID:14702039   PMID:15231747   PMID:15231748   PMID:16055720   PMID:16522924   PMID:16825194   PMID:17932509   PMID:18022663   PMID:18029348   PMID:18063578  
PMID:19454010   PMID:19738201   PMID:20020773   PMID:20186120   PMID:20360068   PMID:20379614   PMID:21081503   PMID:21145461   PMID:21182205   PMID:21204022   PMID:21266579   PMID:21278163  
PMID:21280222   PMID:21873635   PMID:21903422   PMID:21907836   PMID:22446626   PMID:22586326   PMID:22658674   PMID:22681889   PMID:22939629   PMID:22952844   PMID:23098562   PMID:23125841  
PMID:23275553   PMID:23455922   PMID:23473034   PMID:23663784   PMID:23825951   PMID:24390425   PMID:24457600   PMID:24550385   PMID:24711643   PMID:25315684   PMID:25324306   PMID:25437307  
PMID:25665578   PMID:25683715   PMID:25693804   PMID:25921289   PMID:25959826   PMID:26186194   PMID:26496610   PMID:26549023   PMID:26638075   PMID:26678539   PMID:26725010   PMID:26777405  
PMID:26816005   PMID:26979993   PMID:27025967   PMID:27049334   PMID:27173435   PMID:27499296   PMID:27591049   PMID:27609421   PMID:27684187   PMID:28302793   PMID:28416769   PMID:28514442  
PMID:28515276   PMID:28524877   PMID:28561026   PMID:28977666   PMID:29100085   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29357390   PMID:29395067   PMID:29467282  
PMID:29509794   PMID:29511296   PMID:29568061   PMID:29802200   PMID:29845934   PMID:29911972   PMID:29955894   PMID:29991511   PMID:30021884   PMID:30209976   PMID:30320910   PMID:30344098  
PMID:30463901   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31046837   PMID:31048545   PMID:31059266   PMID:31067453   PMID:31076518   PMID:31091453   PMID:31527615   PMID:31553912  
PMID:31586073   PMID:31665637   PMID:31754723   PMID:31822558   PMID:31871319   PMID:31980649   PMID:32129710   PMID:32234473   PMID:32239614   PMID:32457219   PMID:32460013   PMID:32628020  
PMID:32665550   PMID:32694731   PMID:32707033   PMID:32780723   PMID:32788342   PMID:32807901   PMID:32877691   PMID:32994395   PMID:33005030   PMID:33024031   PMID:33239621   PMID:33301849  
PMID:33306668   PMID:33545068   PMID:33644029   PMID:33658012   PMID:33729478   PMID:33731348   PMID:33742100   PMID:33838681   PMID:33916271   PMID:33957083   PMID:33961781   PMID:33989516  
PMID:34020708   PMID:34029587   PMID:34079125   PMID:34091597   PMID:34133714   PMID:34180050   PMID:34244482   PMID:34244565   PMID:34591612   PMID:34650049   PMID:34709727   PMID:34728620  
PMID:34800366   PMID:34901782   PMID:35013218   PMID:35031058   PMID:35032548   PMID:35140242   PMID:35156780   PMID:35211260   PMID:35253629   PMID:35256949   PMID:35271311   PMID:35384245  
PMID:35439318   PMID:35509820   PMID:35563538   PMID:35676659   PMID:35748872   PMID:35803934   PMID:35819319   PMID:35850772   PMID:35914814   PMID:35915203   PMID:35944360   PMID:36012204  
PMID:36042349   PMID:36057605   PMID:36114006   PMID:36163369   PMID:36168628   PMID:36215168   PMID:36243803   PMID:36339263   PMID:36424410   PMID:36526897   PMID:36574265   PMID:36779763  
PMID:36793866   PMID:36912080   PMID:36929488   PMID:37052853   PMID:37071664   PMID:37094863   PMID:37132043   PMID:37211047   PMID:37314180   PMID:37317656   PMID:37689310   PMID:37827155  
PMID:38113892   PMID:38172120   PMID:38270169   PMID:38569033   PMID:38697112   PMID:39066279   PMID:39147351  


Genomics

Comparative Map Data
DHX30
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38347,803,138 - 47,850,193 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl347,802,909 - 47,850,195 (+)EnsemblGRCh38hg38GRCh38
GRCh37347,844,628 - 47,891,683 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36347,819,655 - 47,866,687 (+)NCBINCBI36Build 36hg18NCBI36
Build 34347,819,654 - 47,866,686NCBI
Celera347,794,449 - 47,841,545 (+)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef347,899,640 - 47,947,043 (+)NCBIHuRef
CHM1_1347,795,669 - 47,842,932 (+)NCBICHM1_1
T2T-CHM13v2.0347,830,461 - 47,877,524 (+)NCBIT2T-CHM13v2.0
Dhx30
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399109,913,387 - 109,946,728 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9109,913,388 - 109,946,898 (-)EnsemblGRCm39 Ensembl
GRCm389110,084,319 - 110,117,616 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9110,084,320 - 110,117,830 (-)EnsemblGRCm38mm10GRCm38
MGSCv379109,986,824 - 110,018,086 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369109,929,496 - 109,960,758 (-)NCBIMGSCv36mm8
Celera9109,812,519 - 109,843,847 (-)NCBICelera
Cytogenetic Map9F2NCBI
cM Map959.86NCBI
Dhx30
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88118,943,186 - 118,975,319 (-)NCBIGRCr8
mRatBN7.28110,064,751 - 110,096,954 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8110,064,752 - 110,097,381 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8115,680,523 - 115,712,489 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08113,879,711 - 113,911,677 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08111,722,475 - 111,754,443 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08118,160,315 - 118,194,674 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8118,160,299 - 118,187,791 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08117,515,769 - 117,547,561 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48114,438,389 - 114,470,350 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18114,457,844 - 114,489,805 (-)NCBI
Celera8109,352,489 - 109,384,567 (-)NCBICelera
Cytogenetic Map8q32NCBI
Dhx30
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542024,537,608 - 24,561,293 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542024,537,608 - 24,549,771 (-)NCBIChiLan1.0ChiLan1.0
DHX30
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2247,770,959 - 47,818,666 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1347,775,971 - 47,823,434 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0347,715,275 - 47,762,872 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1348,833,785 - 48,858,037 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl348,819,125 - 48,857,964 (+)Ensemblpanpan1.1panPan2
DHX30
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12041,102,064 - 41,131,464 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2041,102,080 - 41,129,429 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2041,019,046 - 41,048,443 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02041,585,579 - 41,614,984 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2041,585,582 - 41,614,892 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12040,827,709 - 40,857,125 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02041,229,130 - 41,258,515 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02041,508,803 - 41,538,213 (-)NCBIUU_Cfam_GSD_1.0
Dhx30
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118201,870,062 - 201,905,658 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365961,421,094 - 1,455,356 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365961,419,165 - 1,454,797 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DHX30
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1330,617,376 - 30,632,497 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11330,602,008 - 30,632,506 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21333,878,421 - 33,908,846 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DHX30
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1229,191,527 - 9,239,445 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl229,206,175 - 9,239,372 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041157,866,168 - 157,919,224 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dhx30
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473073,656,361 - 73,681,999 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473073,656,378 - 73,685,863 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DHX30
170 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_138615.3(DHX30):c.2354G>A (p.Arg785His) single nucleotide variant Inborn genetic diseases [RCV001265678]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV000558538]|not provided [RCV004721406] Chr3:47848247 [GRCh38]
Chr3:47889737 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_138615.3(DHX30):c.25A>T (p.Lys9Ter) single nucleotide variant not provided [RCV003321103] Chr3:47810708 [GRCh38]
Chr3:47852198 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 copy number gain See cases [RCV000133650] Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2		 pathogenic
NM_138615.3(DHX30):c.2342G>A (p.Gly781Asp) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV000557070] Chr3:47848235 [GRCh38]
Chr3:47889725 [GRCh37]
Chr3:3p21.31		 pathogenic
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 copy number gain See cases [RCV000240519] Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31		 likely pathogenic
NM_138615.3(DHX30):c.1910A>G (p.His637Arg) single nucleotide variant not provided [RCV003321451] Chr3:47846982 [GRCh38]
Chr3:47888472 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) single nucleotide variant Inborn genetic diseases [RCV001266616]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV000546135]|not provided [RCV000489269] Chr3:47848246 [GRCh38]
Chr3:47889736 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_138615.3(DHX30):c.1352C>T (p.Pro451Leu) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV001169947]|not provided [RCV002558696] Chr3:47846424 [GRCh38]
Chr3:47887914 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1685A>G (p.His562Arg) single nucleotide variant Autism [RCV001003584]|Global developmental delay [RCV000454247]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV000544652] Chr3:47846757 [GRCh38]
Chr3:47888247 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp) single nucleotide variant Global developmental delay [RCV000416458]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV000537639]|not provided [RCV003151769] Chr3:47848237 [GRCh38]
Chr3:47889727 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_138615.3(DHX30):c.1478G>A (p.Arg493His) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV000532178]|Seizure [RCV000416420]|not provided [RCV002251742] Chr3:47846550 [GRCh38]
Chr3:47888040 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_138615.3(DHX30):c.451G>T (p.Asp151Tyr) single nucleotide variant not provided [RCV003313612] Chr3:47840961 [GRCh38]
Chr3:47882451 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2723G>A (p.Arg908Gln) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV000626487]|not provided [RCV001764741] Chr3:47848771 [GRCh38]
Chr3:47890261 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_138615.3(DHX30):c.681T>G (p.Phe227Leu) single nucleotide variant Inborn genetic diseases [RCV003295680] Chr3:47841629 [GRCh38]
Chr3:47883119 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_138615.3(DHX30):c.2493+8G>A single nucleotide variant not provided [RCV000976685] Chr3:47848394 [GRCh38]
Chr3:47889884 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2845G>T (p.Val949Leu) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV001591762] Chr3:47848995 [GRCh38]
Chr3:47890485 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3147G>A (p.Arg1049=) single nucleotide variant not provided [RCV000883622] Chr3:47849510 [GRCh38]
Chr3:47891000 [GRCh37]
Chr3:3p21.31		 benign
NM_138615.3(DHX30):c.2930-4C>T single nucleotide variant not provided [RCV000883621] Chr3:47849188 [GRCh38]
Chr3:47890678 [GRCh37]
Chr3:3p21.31		 benign|likely benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
NM_138615.3(DHX30):c.1867C>A (p.Leu623Ile) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV000791210] Chr3:47846939 [GRCh38]
Chr3:47888429 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31(chr3:47799614-48359988)x3 copy number gain not provided [RCV000848232] Chr3:47799614..48359988 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1390A>G (p.Thr464Ala) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV000987263] Chr3:47846462 [GRCh38]
Chr3:47887952 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_138615.3(DHX30):c.1930-1G>T single nucleotide variant Autism, susceptiblity to [RCV003313023] Chr3:47847272 [GRCh38]
Chr3:47888762 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_138615.3(DHX30):c.1384G>A (p.Gly462Arg) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV001198500] Chr3:47846456 [GRCh38]
Chr3:47887946 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.503T>G (p.Leu168Arg) single nucleotide variant Inborn genetic diseases [RCV003291042] Chr3:47841013 [GRCh38]
Chr3:47882503 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1053C>T (p.Pro351=) single nucleotide variant not provided [RCV000885580] Chr3:47845813 [GRCh38]
Chr3:47887303 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3256G>A (p.Val1086Ile) single nucleotide variant not provided [RCV001241092] Chr3:47849694 [GRCh38]
Chr3:47891184 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1517A>G (p.Glu506Gly) single nucleotide variant not provided [RCV002256948] Chr3:47846589 [GRCh38]
Chr3:47888079 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1504C>T (p.Arg502Trp) single nucleotide variant not provided [RCV001546263] Chr3:47846576 [GRCh38]
Chr3:47888066 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3183C>T (p.Thr1061=) single nucleotide variant not provided [RCV001645307] Chr3:47849546 [GRCh38]
Chr3:47891036 [GRCh37]
Chr3:3p21.31		 benign
NM_138615.3(DHX30):c.997G>T (p.Ala333Ser) single nucleotide variant Inborn genetic diseases [RCV001267170] Chr3:47845757 [GRCh38]
Chr3:47887247 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3480T>A (p.Leu1160=) single nucleotide variant not provided [RCV001531391] Chr3:47850015 [GRCh38]
Chr3:47891505 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2098C>T (p.Leu700Phe) single nucleotide variant Inborn genetic diseases [RCV001266140] Chr3:47847524 [GRCh38]
Chr3:47889014 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3208C>T (p.Arg1070Trp) single nucleotide variant Inborn genetic diseases [RCV001266178] Chr3:47849646 [GRCh38]
Chr3:47891136 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.288C>T (p.Ser96=) single nucleotide variant not provided [RCV004598791] Chr3:47829056 [GRCh38]
Chr3:47870546 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2006-6T>C single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV001330357] Chr3:47847426 [GRCh38]
Chr3:47888916 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2311del (p.Val771fs) deletion not provided [RCV001380590] Chr3:47848202 [GRCh38]
Chr3:47889692 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_138615.3(DHX30):c.100A>G (p.Thr34Ala) single nucleotide variant not provided [RCV001531390] Chr3:47818093 [GRCh38]
Chr3:47859583 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3523C>G (p.Leu1175Val) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV001706764] Chr3:47850058 [GRCh38]
Chr3:47891548 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.245C>T (p.Pro82Leu) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003446732]|not provided [RCV001376947] Chr3:47827467 [GRCh38]
Chr3:47868957 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_138615.3(DHX30):c.1028G>A (p.Arg343His) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV002244263] Chr3:47845788 [GRCh38]
Chr3:47887278 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2988G>A (p.Ser996=) single nucleotide variant not provided [RCV001727245] Chr3:47849250 [GRCh38]
Chr3:47890740 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.952G>A (p.Val318Met) single nucleotide variant See cases [RCV002252573] Chr3:47845712 [GRCh38]
Chr3:47887202 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3001G>A (p.Ala1001Thr) single nucleotide variant not provided [RCV001769489] Chr3:47849263 [GRCh38]
Chr3:47890753 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3064G>A (p.Gly1022Ser) single nucleotide variant not provided [RCV001774805] Chr3:47849326 [GRCh38]
Chr3:47890816 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3532_3542delinsTAGT (p.Leu1178_Gly1181delinsTer) indel not provided [RCV001773377] Chr3:47850067..47850077 [GRCh38]
Chr3:47891557..47891567 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3238G>A (p.Val1080Ile) single nucleotide variant not provided [RCV001774018] Chr3:47849676 [GRCh38]
Chr3:47891166 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3052G>A (p.Val1018Met) single nucleotide variant not provided [RCV001764117] Chr3:47849314 [GRCh38]
Chr3:47890804 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2140_2141delinsGC (p.Lys714Ala) indel not provided [RCV001764831] Chr3:47847810..47847811 [GRCh38]
Chr3:47889300..47889301 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2345G>A (p.Arg782Gln) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV001801336] Chr3:47848238 [GRCh38]
Chr3:47889728 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_138615.3(DHX30):c.2099T>G (p.Leu700Arg) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV001837038]|not provided [RCV001768959] Chr3:47847525 [GRCh38]
Chr3:47889015 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1511G>C (p.Ser504Thr) single nucleotide variant not provided [RCV001752367] Chr3:47846583 [GRCh38]
Chr3:47888073 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.854C>A (p.Pro285His) single nucleotide variant not provided [RCV001765410] Chr3:47843170 [GRCh38]
Chr3:47884660 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2575+5G>A single nucleotide variant not provided [RCV001763311] Chr3:47848555 [GRCh38]
Chr3:47890045 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2307_2312delinsCAAGAGCCAATGTG (p.Trp770fs) indel not provided [RCV001771157] Chr3:47848200..47848205 [GRCh38]
Chr3:47889690..47889695 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1128C>G (p.Leu376=) single nucleotide variant not provided [RCV001816351] Chr3:47846200 [GRCh38]
Chr3:47887690 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3484C>A (p.Pro1162Thr) single nucleotide variant not provided [RCV001816352] Chr3:47850019 [GRCh38]
Chr3:47891509 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3282G>T (p.Val1094=) single nucleotide variant not provided [RCV001815920] Chr3:47849720 [GRCh38]
Chr3:47891210 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.1814G>T (p.Gly605Val) single nucleotide variant not provided [RCV001758598] Chr3:47846886 [GRCh38]
Chr3:47888376 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3011_3018del (p.Gln1004fs) deletion not provided [RCV001806661] Chr3:47849272..47849279 [GRCh38]
Chr3:47890762..47890769 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1237C>T (p.Leu413Phe) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV001837393] Chr3:47846309 [GRCh38]
Chr3:47887799 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2134G>A (p.Asp712Asn) single nucleotide variant Inborn genetic diseases [RCV004041032]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV001839099] Chr3:47847804 [GRCh38]
Chr3:47889294 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1420C>G (p.Arg474Gly) single nucleotide variant not provided [RCV002004654] Chr3:47846492 [GRCh38]
Chr3:47887982 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2575+2dup duplication Inborn genetic diseases [RCV004041027]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV001837358] Chr3:47848551..47848552 [GRCh38]
Chr3:47890041..47890042 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_138615.3(DHX30):c.1334A>G (p.Asn445Ser) single nucleotide variant not provided [RCV002223389]|not specified [RCV003317581] Chr3:47846406 [GRCh38]
Chr3:47887896 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.618C>A (p.Asp206Glu) single nucleotide variant Inborn genetic diseases [RCV003093903]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV002227797] Chr3:47841128 [GRCh38]
Chr3:47882618 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_138615.3(DHX30):c.2387C>G (p.Pro796Arg) single nucleotide variant Inborn genetic diseases [RCV003094057]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV004729113]|not specified [RCV002247132] Chr3:47848280 [GRCh38]
Chr3:47889770 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NC_000003.11:g.(?_45435946)_(49137751_?)dup duplication Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003116297] Chr3:45435946..49137751 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_47422587)_(47919033_?)dup duplication not provided [RCV003119596] Chr3:47422587..47919033 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3403G>A (p.Val1135Met) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146069]|not provided [RCV004696319] Chr3:47849938 [GRCh38]
Chr3:47891428 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2245A>G (p.Ser749Gly) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146070] Chr3:47847915 [GRCh38]
Chr3:47889405 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2929+2T>C single nucleotide variant See cases [RCV003128539] Chr3:47849081 [GRCh38]
Chr3:47890571 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_138615.3(DHX30):c.2393G>A (p.Ser798Asn) single nucleotide variant not provided [RCV003128903] Chr3:47848286 [GRCh38]
Chr3:47889776 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.270C>A (p.His90Gln) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146075] Chr3:47829038 [GRCh38]
Chr3:47870528 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1624C>T (p.Arg542Cys) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146077] Chr3:47846696 [GRCh38]
Chr3:47888186 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.647A>G (p.His216Arg) single nucleotide variant not provided [RCV003235939] Chr3:47841157 [GRCh38]
Chr3:47882647 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.677C>T (p.Ser226Phe) single nucleotide variant not provided [RCV002267334] Chr3:47841625 [GRCh38]
Chr3:47883115 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1325C>T (p.Thr442Ile) single nucleotide variant not provided [RCV002293918] Chr3:47846397 [GRCh38]
Chr3:47887887 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.73C>T (p.Arg25Cys) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146078] Chr3:47818066 [GRCh38]
Chr3:47859556 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.509C>G (p.Pro170Arg) single nucleotide variant DHX30-related disorder [RCV003928956]|Inborn genetic diseases [RCV003239324]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146079] Chr3:47841019 [GRCh38]
Chr3:47882509 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_138615.3(DHX30):c.3131A>G (p.Asn1044Ser) single nucleotide variant not provided [RCV002269651] Chr3:47849494 [GRCh38]
Chr3:47890984 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2453A>C (p.Asn818Thr) single nucleotide variant not provided [RCV003235996] Chr3:47848346 [GRCh38]
Chr3:47889836 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1948C>T (p.Leu650Phe) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146071] Chr3:47847291 [GRCh38]
Chr3:47888781 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1666G>A (p.Val556Ile) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146074] Chr3:47846738 [GRCh38]
Chr3:47888228 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1109C>T (p.Ser370Leu) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146076] Chr3:47846181 [GRCh38]
Chr3:47887671 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3287C>T (p.Pro1096Leu) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146068] Chr3:47849725 [GRCh38]
Chr3:47891215 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3214C>T (p.Arg1072Ter) single nucleotide variant not provided [RCV002293875] Chr3:47849652 [GRCh38]
Chr3:47891142 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_138615.3(DHX30):c.1472C>G (p.Pro491Arg) single nucleotide variant not provided [RCV002269732] Chr3:47846544 [GRCh38]
Chr3:47888034 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.873dup (p.Ala292fs) duplication not provided [RCV002285629] Chr3:47843187..47843188 [GRCh38]
Chr3:47884677..47884678 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1 copy number loss not provided [RCV002279744] Chr3:44948482..49115809 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_138615.3(DHX30):c.577G>A (p.Glu193Lys) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146072] Chr3:47841087 [GRCh38]
Chr3:47882577 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2389C>T (p.Arg797Ter) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003152584] Chr3:47848282 [GRCh38]
Chr3:47889772 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_138615.3(DHX30):c.2875G>A (p.Glu959Lys) single nucleotide variant Inborn genetic diseases [RCV003300402] Chr3:47849025 [GRCh38]
Chr3:47890515 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1756C>G (p.Arg586Gly) single nucleotide variant not provided [RCV002474251] Chr3:47846828 [GRCh38]
Chr3:47888318 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3539G>A (p.Arg1180Gln) single nucleotide variant Inborn genetic diseases [RCV002681990]|not provided [RCV004775312] Chr3:47850074 [GRCh38]
Chr3:47891564 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.882G>A (p.Gly294=) single nucleotide variant not provided [RCV002512225] Chr3:47843198 [GRCh38]
Chr3:47884688 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.929A>G (p.Lys310Arg) single nucleotide variant Inborn genetic diseases [RCV002778797]|not provided [RCV003883902] Chr3:47843245 [GRCh38]
Chr3:47884735 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3379C>T (p.Arg1127Trp) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV002510690] Chr3:47849914 [GRCh38]
Chr3:47891404 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.560G>A (p.Arg187Gln) single nucleotide variant Inborn genetic diseases [RCV002972836] Chr3:47841070 [GRCh38]
Chr3:47882560 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3407G>A (p.Arg1136Gln) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV002510698] Chr3:47849942 [GRCh38]
Chr3:47891432 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.536G>T (p.Gly179Val) single nucleotide variant not provided [RCV002462618] Chr3:47841046 [GRCh38]
Chr3:47882536 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1841T>C (p.Phe614Ser) single nucleotide variant Inborn genetic diseases [RCV002779016] Chr3:47846913 [GRCh38]
Chr3:47888403 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2854T>C (p.Trp952Arg) single nucleotide variant Inborn genetic diseases [RCV002793977] Chr3:47849004 [GRCh38]
Chr3:47890494 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3262G>A (p.Val1088Ile) single nucleotide variant not provided [RCV002462595] Chr3:47849700 [GRCh38]
Chr3:47891190 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3082A>G (p.Ile1028Val) single nucleotide variant Inborn genetic diseases [RCV002848864] Chr3:47849344 [GRCh38]
Chr3:47890834 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3202C>T (p.Arg1068Trp) single nucleotide variant Inborn genetic diseases [RCV002949892] Chr3:47849640 [GRCh38]
Chr3:47891130 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.959G>A (p.Arg320Lys) single nucleotide variant Inborn genetic diseases [RCV002925031] Chr3:47845719 [GRCh38]
Chr3:47887209 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3500A>G (p.Glu1167Gly) single nucleotide variant Inborn genetic diseases [RCV002798467] Chr3:47850035 [GRCh38]
Chr3:47891525 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3319G>A (p.Val1107Met) single nucleotide variant Inborn genetic diseases [RCV002823558] Chr3:47849757 [GRCh38]
Chr3:47891247 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1039A>G (p.Thr347Ala) single nucleotide variant Inborn genetic diseases [RCV002763789] Chr3:47845799 [GRCh38]
Chr3:47887289 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1336G>A (p.Ala446Thr) single nucleotide variant Inborn genetic diseases [RCV002645279] Chr3:47846408 [GRCh38]
Chr3:47887898 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1984A>G (p.Ile662Val) single nucleotide variant Inborn genetic diseases [RCV002787896] Chr3:47847327 [GRCh38]
Chr3:47888817 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1748C>T (p.Pro583Leu) single nucleotide variant Inborn genetic diseases [RCV002769818] Chr3:47846820 [GRCh38]
Chr3:47888310 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1267C>T (p.Arg423Trp) single nucleotide variant Inborn genetic diseases [RCV002718279] Chr3:47846339 [GRCh38]
Chr3:47887829 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1145A>T (p.Asp382Val) single nucleotide variant Inborn genetic diseases [RCV002897178] Chr3:47846217 [GRCh38]
Chr3:47887707 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2345G>C (p.Arg782Pro) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003152925] Chr3:47848238 [GRCh38]
Chr3:47889728 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_138615.3(DHX30):c.604A>G (p.Ile202Val) single nucleotide variant Inborn genetic diseases [RCV002722960] Chr3:47841114 [GRCh38]
Chr3:47882604 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.1822G>A (p.Val608Ile) single nucleotide variant Inborn genetic diseases [RCV003173195] Chr3:47846894 [GRCh38]
Chr3:47888384 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.1234C>T (p.Arg412Cys) single nucleotide variant Inborn genetic diseases [RCV003206495]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV003989824]|not specified [RCV003388175] Chr3:47846306 [GRCh38]
Chr3:47887796 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2493+19G>T single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003225910] Chr3:47848405 [GRCh38]
Chr3:47889895 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.443C>A (p.Ser148Tyr) single nucleotide variant Inborn genetic diseases [RCV003210397] Chr3:47840953 [GRCh38]
Chr3:47882443 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2359C>T (p.Gln787Ter) single nucleotide variant not provided [RCV003322236] Chr3:47848252 [GRCh38]
Chr3:47889742 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_138615.3(DHX30):c.1118C>T (p.Ala373Val) single nucleotide variant not provided [RCV003318862] Chr3:47846190 [GRCh38]
Chr3:47887680 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2314T>G (p.Ser772Ala) single nucleotide variant not provided [RCV003318762] Chr3:47848207 [GRCh38]
Chr3:47889697 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2335C>T (p.Arg779Cys) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003322683] Chr3:47848228 [GRCh38]
Chr3:47889718 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2266C>T (p.Arg756Cys) single nucleotide variant not provided [RCV003319104] Chr3:47847936 [GRCh38]
Chr3:47889426 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3263_3266del (p.Val1088fs) deletion not provided [RCV003325643] Chr3:47849699..47849702 [GRCh38]
Chr3:47891189..47891192 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.258A>G (p.Lys86=) single nucleotide variant not provided [RCV003328945] Chr3:47829026 [GRCh38]
Chr3:47870516 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2423T>A (p.Val808Glu) single nucleotide variant not provided [RCV003328768] Chr3:47848316 [GRCh38]
Chr3:47889806 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.433C>G (p.Arg145Gly) single nucleotide variant Inborn genetic diseases [RCV003342559] Chr3:47840943 [GRCh38]
Chr3:47882433 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.1480A>C (p.Ile494Leu) single nucleotide variant Inborn genetic diseases [RCV003342162] Chr3:47846552 [GRCh38]
Chr3:47888042 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3579C>A (p.Asp1193Glu) single nucleotide variant not provided [RCV003332747] Chr3:47850114 [GRCh38]
Chr3:47891604 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2880T>G (p.Asn960Lys) single nucleotide variant not specified [RCV003331847] Chr3:47849030 [GRCh38]
Chr3:47890520 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2060G>A (p.Arg687His) single nucleotide variant Inborn genetic diseases [RCV003374635] Chr3:47847486 [GRCh38]
Chr3:47888976 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1420C>T (p.Arg474Cys) single nucleotide variant Inborn genetic diseases [RCV003373125] Chr3:47846492 [GRCh38]
Chr3:47887982 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.808A>G (p.Thr270Ala) single nucleotide variant not provided [RCV003443410] Chr3:47843124 [GRCh38]
Chr3:47884614 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3088-4G>A single nucleotide variant not provided [RCV003433567] Chr3:47849447 [GRCh38]
Chr3:47890937 [GRCh37]
Chr3:3p21.31		 likely benign
GRCh37/hg19 3p21.31(chr3:47720958-48490193)x3 copy number gain not provided [RCV003484129] Chr3:47720958..48490193 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1995C>A (p.Arg665=) single nucleotide variant not provided [RCV003437818] Chr3:47847338 [GRCh38]
Chr3:47888828 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.912G>A (p.Ala304=) single nucleotide variant not provided [RCV003437814] Chr3:47843228 [GRCh38]
Chr3:47884718 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3075C>A (p.Pro1025=) single nucleotide variant not provided [RCV003437819] Chr3:47849337 [GRCh38]
Chr3:47890827 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3519G>A (p.Ala1173=) single nucleotide variant not provided [RCV003437821] Chr3:47850054 [GRCh38]
Chr3:47891544 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.1772G>A (p.Ser591Asn) single nucleotide variant not provided [RCV003443888] Chr3:47846844 [GRCh38]
Chr3:47888334 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2129T>C (p.Met710Thr) single nucleotide variant not provided [RCV003442420] Chr3:47847799 [GRCh38]
Chr3:47889289 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.668+5A>G single nucleotide variant not provided [RCV003433563] Chr3:47841183 [GRCh38]
Chr3:47882673 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2814C>T (p.Ala938=) single nucleotide variant not provided [RCV003433566] Chr3:47848964 [GRCh38]
Chr3:47890454 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.1986C>T (p.Ile662=) single nucleotide variant not provided [RCV003437817] Chr3:47847329 [GRCh38]
Chr3:47888819 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3298C>T (p.Leu1100=) single nucleotide variant not provided [RCV003433568] Chr3:47849736 [GRCh38]
Chr3:47891226 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.1778C>T (p.Thr593Ile) single nucleotide variant DHX30-related disorder [RCV003404210] Chr3:47846850 [GRCh38]
Chr3:47888340 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1913_1924del (p.Arg638_His641del) deletion DHX30-related disorder [RCV003402274] Chr3:47846980..47846991 [GRCh38]
Chr3:47888470..47888481 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.441_442delinsGA (p.Ser148Thr) indel not specified [RCV003405110] Chr3:47840951..47840952 [GRCh38]
Chr3:47882441..47882442 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1945G>A (p.Ala649Thr) single nucleotide variant not provided [RCV003437816] Chr3:47847288 [GRCh38]
Chr3:47888778 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.1129C>T (p.Arg377Trp) single nucleotide variant not provided [RCV003433564] Chr3:47846201 [GRCh38]
Chr3:47887691 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.521G>A (p.Arg174Gln) single nucleotide variant not specified [RCV003388370] Chr3:47841031 [GRCh38]
Chr3:47882521 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.450C>T (p.Ala150=) single nucleotide variant not provided [RCV003437813] Chr3:47840960 [GRCh38]
Chr3:47882450 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.633C>T (p.Thr211=) single nucleotide variant not provided [RCV003433562] Chr3:47841143 [GRCh38]
Chr3:47882633 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2331C>T (p.Ile777=) single nucleotide variant DHX30-related disorder [RCV003919182]|not provided [RCV003433565] Chr3:47848224 [GRCh38]
Chr3:47889714 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.75C>G (p.Arg25=) single nucleotide variant not provided [RCV003437812] Chr3:47818068 [GRCh38]
Chr3:47859558 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.1292C>T (p.Ala431Val) single nucleotide variant not provided [RCV003437815] Chr3:47846364 [GRCh38]
Chr3:47887854 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3192-3T>C single nucleotide variant DHX30-related disorder [RCV003938986]|not provided [RCV003437820] Chr3:47849627 [GRCh38]
Chr3:47891117 [GRCh37]
Chr3:3p21.31		 benign
NM_138615.3(DHX30):c.673A>T (p.Ser225Cys) single nucleotide variant DHX30-related disorder [RCV003404441] Chr3:47841621 [GRCh38]
Chr3:47883111 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1510A>G (p.Ser504Gly) single nucleotide variant not provided [RCV003694449] Chr3:47846582 [GRCh38]
Chr3:47888072 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31(chr3:47405305-47880799)x3 copy number gain not specified [RCV003986460] Chr3:47405305..47880799 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2085C>T (p.His695=) single nucleotide variant DHX30-related disorder [RCV003976582] Chr3:47847511 [GRCh38]
Chr3:47889001 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.630G>A (p.Met210Ile) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003993545] Chr3:47841140 [GRCh38]
Chr3:47882630 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2770-7C>T single nucleotide variant not provided [RCV003887467] Chr3:47848913 [GRCh38]
Chr3:47890403 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2682T>C (p.Arg894=) single nucleotide variant DHX30-related disorder [RCV003949783] Chr3:47848730 [GRCh38]
Chr3:47890220 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3439C>T (p.Arg1147Cys) single nucleotide variant Inborn genetic diseases [RCV004373524] Chr3:47849974 [GRCh38]
Chr3:47891464 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3505G>A (p.Gly1169Arg) single nucleotide variant not provided [RCV003885552] Chr3:47850040 [GRCh38]
Chr3:47891530 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.1448G>A (p.Arg483His) single nucleotide variant Inborn genetic diseases [RCV004373520] Chr3:47846520 [GRCh38]
Chr3:47888010 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2142G>A (p.Lys714=) single nucleotide variant DHX30-related disorder [RCV003976773] Chr3:47847812 [GRCh38]
Chr3:47889302 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3564G>A (p.Val1188=) single nucleotide variant not provided [RCV003887183] Chr3:47850099 [GRCh38]
Chr3:47891589 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2707G>A (p.Val903Ile) single nucleotide variant not provided [RCV003887199] Chr3:47848755 [GRCh38]
Chr3:47890245 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2997C>T (p.Thr999=) single nucleotide variant DHX30-related disorder [RCV003949185] Chr3:47849259 [GRCh38]
Chr3:47890749 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2597A>T (p.Tyr866Phe) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003988994] Chr3:47848645 [GRCh38]
Chr3:47890135 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.517A>G (p.Ile173Val) single nucleotide variant DHX30-related disorder [RCV003922146] Chr3:47841027 [GRCh38]
Chr3:47882517 [GRCh37]
Chr3:3p21.31		 benign
NM_138615.3(DHX30):c.1821C>T (p.Pro607=) single nucleotide variant DHX30-related disorder [RCV003944651] Chr3:47846893 [GRCh38]
Chr3:47888383 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3088-19T>G single nucleotide variant not specified [RCV004527083] Chr3:47849432 [GRCh38]
Chr3:47890922 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2232G>C (p.Val744=) single nucleotide variant DHX30-related disorder [RCV003959597] Chr3:47847902 [GRCh38]
Chr3:47889392 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3380G>T (p.Arg1127Leu) single nucleotide variant not provided [RCV003887402] Chr3:47849915 [GRCh38]
Chr3:47891405 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2637C>T (p.Thr879=) single nucleotide variant DHX30-related disorder [RCV003914105] Chr3:47848685 [GRCh38]
Chr3:47890175 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.1593C>T (p.Ala531=) single nucleotide variant not provided [RCV003884922] Chr3:47846665 [GRCh38]
Chr3:47888155 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2626C>T (p.His876Tyr) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV003992644] Chr3:47848674 [GRCh38]
Chr3:47890164 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2706C>T (p.Val902=) single nucleotide variant DHX30-related disorder [RCV003967299] Chr3:47848754 [GRCh38]
Chr3:47890244 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2895C>T (p.Asn965=) single nucleotide variant DHX30-related disorder [RCV003974211]|not provided [RCV004546845] Chr3:47849045 [GRCh38]
Chr3:47890535 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.1580C>T (p.Ser527Phe) single nucleotide variant Inborn genetic diseases [RCV004373521] Chr3:47846652 [GRCh38]
Chr3:47888142 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1805A>T (p.Tyr602Phe) single nucleotide variant Inborn genetic diseases [RCV004373522] Chr3:47846877 [GRCh38]
Chr3:47888367 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.2859G>A (p.Gln953=) single nucleotide variant not provided [RCV003885890] Chr3:47849009 [GRCh38]
Chr3:47890499 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3427C>T (p.Arg1143Trp) single nucleotide variant Inborn genetic diseases [RCV004373523] Chr3:47849962 [GRCh38]
Chr3:47891452 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.3499G>C (p.Glu1167Gln) single nucleotide variant not specified [RCV004690753] Chr3:47850034 [GRCh38]
Chr3:47891524 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2026C>T (p.Pro676Ser) single nucleotide variant not provided [RCV004590747] Chr3:47847452 [GRCh38]
Chr3:47888942 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2942A>C (p.Gln981Pro) single nucleotide variant not provided [RCV004590945] Chr3:47849204 [GRCh38]
Chr3:47890694 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2291C>T (p.Ser764Phe) single nucleotide variant not provided [RCV004699100] Chr3:47848184 [GRCh38]
Chr3:47889674 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1397G>C (p.Arg466Pro) single nucleotide variant Neurodevelopmental disorder with severe motor impairment and absent language [RCV004594932] Chr3:47846469 [GRCh38]
Chr3:47887959 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.256-3C>T single nucleotide variant not provided [RCV004697526] Chr3:47829021 [GRCh38]
Chr3:47870511 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3107C>A (p.Thr1036Asn) single nucleotide variant not provided [RCV004592352] Chr3:47849470 [GRCh38]
Chr3:47890960 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.492del (p.Trp165fs) deletion not provided [RCV004593510] Chr3:47841001 [GRCh38]
Chr3:47882491 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1231G>A (p.Val411Ile) single nucleotide variant Inborn genetic diseases [RCV004614178] Chr3:47846303 [GRCh38]
Chr3:47887793 [GRCh37]
Chr3:3p21.31		 likely benign
NM_138615.3(DHX30):c.479T>C (p.Met160Thr) single nucleotide variant Inborn genetic diseases [RCV004614180] Chr3:47840989 [GRCh38]
Chr3:47882479 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3548G>C (p.Cys1183Ser) single nucleotide variant Inborn genetic diseases [RCV004614179] Chr3:47850083 [GRCh38]
Chr3:47891573 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3329G>A (p.Arg1110His) single nucleotide variant Inborn genetic diseases [RCV004614181] Chr3:47849767 [GRCh38]
Chr3:47891257 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.28+2T>C single nucleotide variant not provided [RCV004761023]   uncertain significance
NM_138615.3(DHX30):c.2954A>C (p.Asn985Thr) single nucleotide variant not provided [RCV004765981] Chr3:47849216 [GRCh38]
Chr3:47890706 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.1613G>A (p.Gly538Asp) single nucleotide variant not provided [RCV004721949] Chr3:47846685 [GRCh38]
Chr3:47888175 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_138615.3(DHX30):c.1672G>A (p.Val558Met) single nucleotide variant not provided [RCV004726034] Chr3:47846744 [GRCh38]
Chr3:47888234 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.3513_3556del (p.Leu1171_Leu1172insTer) deletion not provided [RCV004774014] Chr3:47850041..47850084 [GRCh38]
Chr3:47891531..47891574 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.2308T>C (p.Trp770Arg) single nucleotide variant not provided [RCV004768075] Chr3:47848201 [GRCh38]
Chr3:47889691 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_138615.3(DHX30):c.797T>C (p.Met266Thr) single nucleotide variant not provided [RCV004761070]   uncertain significance
NM_138615.3(DHX30):c.314A>G (p.Lys105Arg) single nucleotide variant not provided [RCV004761647]   uncertain significance
NM_138615.3(DHX30):c.1278G>A (p.Pro426=) single nucleotide variant DHX30-related disorder [RCV004754021] Chr3:47846350 [GRCh38]
Chr3:47887840 [GRCh37]
Chr3:3p21.31		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5540
Count of miRNA genes:1295
Interacting mature miRNAs:1713
Transcripts:ENST00000348968, ENST00000395745, ENST00000415400, ENST00000441384, ENST00000445061, ENST00000446256, ENST00000457607, ENST00000461905, ENST00000470959, ENST00000471082, ENST00000472718, ENST00000474183, ENST00000476446, ENST00000492893
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
407341100GWAS990076_Hurate measurement QTL GWAS990076 (human)3e-11urate measurementblood uric acid level (CMO:0000501)34784251347842514Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
2316061GLUCO194_HGlucose level QTL 194 (human)0.02Glucose level32338077449380774Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human

Markers in Region
RH69910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37347,891,371 - 47,891,563UniSTSGRCh37
Build 36347,866,375 - 47,866,567RGDNCBI36
Celera347,841,230 - 47,841,422RGD
Cytogenetic Map3p21.31UniSTS
HuRef347,946,728 - 47,946,920UniSTS
RH99010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37347,891,379 - 47,891,563UniSTSGRCh37
Build 36347,866,383 - 47,866,567RGDNCBI36
Celera347,841,238 - 47,841,422RGD
Cytogenetic Map3p21.31UniSTS
HuRef347,946,736 - 47,946,920UniSTS
GeneMap99-GB4 RH Map3156.66UniSTS
RH80618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37347,891,414 - 47,891,635UniSTSGRCh37
Build 36347,866,418 - 47,866,639RGDNCBI36
Celera347,841,273 - 47,841,494RGD
Cytogenetic Map3p21.31UniSTS
HuRef347,946,771 - 47,946,992UniSTS
GeneMap99-GB4 RH Map3156.71UniSTS
RH119134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37347,883,114 - 47,883,312UniSTSGRCh37
Build 36347,858,118 - 47,858,316RGDNCBI36
Celera347,832,973 - 47,833,171RGD
Cytogenetic Map3p21.31UniSTS
HuRef347,938,471 - 47,938,669UniSTS
TNG Radiation Hybrid Map330178.0UniSTS
SHGC-36309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37347,857,523 - 47,857,622UniSTSGRCh37
Build 36347,832,527 - 47,832,626RGDNCBI36
Celera347,807,314 - 47,807,413RGD
Cytogenetic Map3p21.31UniSTS
HuRef347,912,825 - 47,912,924UniSTS
Stanford-G3 RH Map32069.0UniSTS
NCBI RH Map3475.6UniSTS
GeneMap99-G3 RH Map31967.0UniSTS
A010B06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37347,858,145 - 47,858,379UniSTSGRCh37
Build 36347,833,149 - 47,833,383RGDNCBI36
Celera347,807,936 - 47,808,170RGD
Cytogenetic Map3p21.31UniSTS
HuRef347,913,447 - 47,913,681UniSTS
GeneMap99-GB4 RH Map3155.8UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
G33066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37347,858,145 - 47,858,379UniSTSGRCh37
Celera347,807,936 - 47,808,170UniSTS
Cytogenetic Map3p21.31UniSTS
HuRef347,913,447 - 47,913,681UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001330990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_075079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD368247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000348968   ⟹   ENSP00000343442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,803,165 - 47,850,193 (+)Ensembl
Ensembl Acc Id: ENST00000395745   ⟹   ENSP00000379094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,803,134 - 47,850,192 (+)Ensembl
Ensembl Acc Id: ENST00000415400   ⟹   ENSP00000395166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,803,107 - 47,824,863 (+)Ensembl
Ensembl Acc Id: ENST00000441384   ⟹   ENSP00000410571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,803,138 - 47,842,679 (+)Ensembl
Ensembl Acc Id: ENST00000445061   ⟹   ENSP00000405620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,803,138 - 47,850,193 (+)Ensembl
Ensembl Acc Id: ENST00000446256   ⟹   ENSP00000392601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,810,684 - 47,850,195 (+)Ensembl
Ensembl Acc Id: ENST00000457607   ⟹   ENSP00000394682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,825,028 - 47,850,187 (+)Ensembl
Ensembl Acc Id: ENST00000461905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,845,502 - 47,846,404 (+)Ensembl
Ensembl Acc Id: ENST00000470959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,827,373 - 47,831,128 (+)Ensembl
Ensembl Acc Id: ENST00000471082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,825,912 - 47,829,135 (+)Ensembl
Ensembl Acc Id: ENST00000472718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,802,909 - 47,816,972 (+)Ensembl
Ensembl Acc Id: ENST00000474183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,847,777 - 47,848,996 (+)Ensembl
Ensembl Acc Id: ENST00000476446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,802,950 - 47,822,310 (+)Ensembl
Ensembl Acc Id: ENST00000492893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,803,125 - 47,825,004 (+)Ensembl
Ensembl Acc Id: ENST00000619982   ⟹   ENSP00000483160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl347,819,227 - 47,850,195 (+)Ensembl
RefSeq Acc Id: NM_001330990   ⟹   NP_001317919
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,803,138 - 47,850,193 (+)NCBI
T2T-CHM13v2.0347,830,461 - 47,877,524 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014966   ⟹   NP_055781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,803,138 - 47,850,193 (+)NCBI
GRCh37347,844,399 - 47,891,686 (+)RGD
Build 36347,819,655 - 47,866,687 (+)NCBI Archive
Celera347,794,449 - 47,841,545 (+)RGD
HuRef347,899,640 - 47,947,043 (+)ENTREZGENE
CHM1_1347,795,669 - 47,842,932 (+)NCBI
T2T-CHM13v2.0347,830,461 - 47,877,524 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138615   ⟹   NP_619520
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,803,138 - 47,850,193 (+)NCBI
GRCh37347,844,399 - 47,891,686 (+)RGD
Build 36347,819,655 - 47,866,687 (+)NCBI Archive
Celera347,794,449 - 47,841,545 (+)RGD
HuRef347,899,640 - 47,947,043 (+)ENTREZGENE
CHM1_1347,795,669 - 47,842,932 (+)NCBI
T2T-CHM13v2.0347,830,461 - 47,877,524 (+)NCBI
Sequence:
RefSeq Acc Id: NR_075079
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,803,138 - 47,816,937 (+)NCBI
GRCh37347,844,399 - 47,891,686 (+)NCBI
HuRef347,899,640 - 47,947,043 (+)NCBI
CHM1_1347,795,669 - 47,809,719 (+)NCBI
T2T-CHM13v2.0347,830,461 - 47,844,264 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713033   ⟹   XP_006713096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,803,138 - 47,850,193 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533494   ⟹   XP_011531796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,803,458 - 47,850,193 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453405   ⟹   XP_024309173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,818,050 - 47,850,193 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447727   ⟹   XP_047303683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,818,050 - 47,850,193 (+)NCBI
RefSeq Acc Id: XM_047447728   ⟹   XP_047303684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,818,050 - 47,850,193 (+)NCBI
RefSeq Acc Id: XM_047447729   ⟹   XP_047303685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,818,050 - 47,850,193 (+)NCBI
RefSeq Acc Id: XM_054345715   ⟹   XP_054201690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0347,845,400 - 47,877,524 (+)NCBI
RefSeq Acc Id: XM_054345716   ⟹   XP_054201691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0347,845,398 - 47,877,524 (+)NCBI
RefSeq Acc Id: XM_054345717   ⟹   XP_054201692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0347,830,856 - 47,877,524 (+)NCBI
RefSeq Acc Id: XM_054345718   ⟹   XP_054201693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0347,830,461 - 47,877,524 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001317919 (Get FASTA)   NCBI Sequence Viewer  
  NP_055781 (Get FASTA)   NCBI Sequence Viewer  
  NP_619520 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713096 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531796 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309173 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303683 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303684 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303685 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201690 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201691 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201692 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201693 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH14237 (Get FASTA)   NCBI Sequence Viewer  
  AAH15029 (Get FASTA)   NCBI Sequence Viewer  
  AAH20126 (Get FASTA)   NCBI Sequence Viewer  
  AAH38417 (Get FASTA)   NCBI Sequence Viewer  
  BAA74913 (Get FASTA)   NCBI Sequence Viewer  
  BAA92071 (Get FASTA)   NCBI Sequence Viewer  
  BAF83955 (Get FASTA)   NCBI Sequence Viewer  
  EAW64833 (Get FASTA)   NCBI Sequence Viewer  
  EAW64834 (Get FASTA)   NCBI Sequence Viewer  
  EAW64835 (Get FASTA)   NCBI Sequence Viewer  
  EAW64836 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000343442
  ENSP00000343442.4
  ENSP00000379094.2
  ENSP00000392601.3
  ENSP00000394682
  ENSP00000394682.1
  ENSP00000395166.1
  ENSP00000405620
  ENSP00000405620.1
  ENSP00000410571.1
  ENSP00000483160
  ENSP00000483160.1
GenBank Protein Q7L2E3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_619520   ⟸   NM_138615
- Peptide Label: isoform 1
- UniProtKB: Q96CH4 (UniProtKB/Swiss-Prot),   Q7Z753 (UniProtKB/Swiss-Prot),   O94965 (UniProtKB/Swiss-Prot),   A8K5F1 (UniProtKB/Swiss-Prot),   Q9NUQ0 (UniProtKB/Swiss-Prot),   Q7L2E3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_055781   ⟸   NM_014966
- Peptide Label: isoform 2
- UniProtKB: Q7L2E3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006713096   ⟸   XM_006713033
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011531796   ⟸   XM_011533494
- Peptide Label: isoform X3
- UniProtKB: Q96CH4 (UniProtKB/Swiss-Prot),   Q7Z753 (UniProtKB/Swiss-Prot),   O94965 (UniProtKB/Swiss-Prot),   A8K5F1 (UniProtKB/Swiss-Prot),   Q9NUQ0 (UniProtKB/Swiss-Prot),   Q7L2E3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317919   ⟸   NM_001330990
- Peptide Label: isoform 4
- UniProtKB: H7BXY3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309173   ⟸   XM_024453405
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000343442   ⟸   ENST00000348968
Ensembl Acc Id: ENSP00000395166   ⟸   ENST00000415400
Ensembl Acc Id: ENSP00000410571   ⟸   ENST00000441384
Ensembl Acc Id: ENSP00000394682   ⟸   ENST00000457607
Ensembl Acc Id: ENSP00000405620   ⟸   ENST00000445061
Ensembl Acc Id: ENSP00000392601   ⟸   ENST00000446256
Ensembl Acc Id: ENSP00000483160   ⟸   ENST00000619982
Ensembl Acc Id: ENSP00000379094   ⟸   ENST00000395745
RefSeq Acc Id: XP_047303684   ⟸   XM_047447728
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047303683   ⟸   XM_047447727
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047303685   ⟸   XM_047447729
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201693   ⟸   XM_054345718
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054201692   ⟸   XM_054345717
- Peptide Label: isoform X3
- UniProtKB: Q96CH4 (UniProtKB/Swiss-Prot),   Q7Z753 (UniProtKB/Swiss-Prot),   Q7L2E3 (UniProtKB/Swiss-Prot),   O94965 (UniProtKB/Swiss-Prot),   A8K5F1 (UniProtKB/Swiss-Prot),   Q9NUQ0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054201691   ⟸   XM_054345716
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054201690   ⟸   XM_054345715
- Peptide Label: isoform X1
Protein Domains
DRBM   Helicase ATP-binding   Helicase C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7L2E3-F1-model_v2 AlphaFold Q7L2E3 1-1194 view protein structure

Promoters
RGD ID:6864270
Promoter ID:EPDNEW_H5300
Type:initiation region
Name:DHX30_2
Description:DExH-box helicase 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5299  EPDNEW_H5301  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,802,906 - 47,802,966EPDNEW
RGD ID:6864272
Promoter ID:EPDNEW_H5301
Type:initiation region
Name:DHX30_1
Description:DExH-box helicase 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5299  EPDNEW_H5300  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,803,164 - 47,803,224EPDNEW
RGD ID:6800828
Promoter ID:HG_KWN:44850
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014966,   NM_138615,   OTTHUMT00000346134,   OTTHUMT00000346136,   OTTHUMT00000346137,   OTTHUMT00000346140,   OTTHUMT00000346141,   OTTHUMT00000346142,   OTTHUMT00000346143
Position:
Human AssemblyChrPosition (strand)Source
Build 36347,819,274 - 47,819,774 (+)MPROMDB
RGD ID:6800832
Promoter ID:HG_KWN:44851
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000328976,   OTTHUMT00000346139,   UC010HJR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36347,841,336 - 47,841,836 (+)MPROMDB
RGD ID:6800829
Promoter ID:HG_KWN:44852
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562
Transcripts:OTTHUMT00000346144
Position:
Human AssemblyChrPosition (strand)Source
Build 36347,841,471 - 47,842,502 (+)MPROMDB
RGD ID:6800830
Promoter ID:HG_KWN:44854
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000346146
Position:
Human AssemblyChrPosition (strand)Source
Build 36347,861,006 - 47,862,387 (+)MPROMDB
RGD ID:6800833
Promoter ID:HG_KWN:44855
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000346147
Position:
Human AssemblyChrPosition (strand)Source
Build 36347,863,276 - 47,864,857 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16716 AgrOrtholog
COSMIC DHX30 COSMIC
Ensembl Genes ENSG00000132153 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000348968 ENTREZGENE
  ENST00000348968.8 UniProtKB/TrEMBL
  ENST00000395745.6 UniProtKB/TrEMBL
  ENST00000415400.5 UniProtKB/TrEMBL
  ENST00000441384.5 UniProtKB/TrEMBL
  ENST00000445061 ENTREZGENE
  ENST00000445061.6 UniProtKB/Swiss-Prot
  ENST00000446256.6 UniProtKB/Swiss-Prot
  ENST00000457607 ENTREZGENE
  ENST00000457607.1 UniProtKB/Swiss-Prot
  ENST00000472718 ENTREZGENE
  ENST00000619982 ENTREZGENE
  ENST00000619982.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.120.1080 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.160.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000132153 GTEx
HGNC ID HGNC:16716 ENTREZGENE
Human Proteome Map DHX30 Human Proteome Map
InterPro DEAD/DEAH_box_helicase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA/RNA_helicase_DEAH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1605 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase-assoc_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22907 UniProtKB/Swiss-Prot
NCBI Gene 22907 ENTREZGENE
OMIM 616423 OMIM
PANTHER ATP-DEPENDENT RNA HELICASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-DEPENDENT RNA HELICASE DHX30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HA2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OB_NTP_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27217 PharmGKB
PROSITE DEAH_ATP_HELICASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HA2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K5F1 ENTREZGENE
  DHX30_HUMAN UniProtKB/Swiss-Prot
  F6R0H4_HUMAN UniProtKB/TrEMBL
  H7BXY3 ENTREZGENE, UniProtKB/TrEMBL
  O94965 ENTREZGENE
  Q7L2E3 ENTREZGENE
  Q7Z753 ENTREZGENE
  Q96CH4 ENTREZGENE
  Q9NUQ0 ENTREZGENE
UniProt Secondary A8K5F1 UniProtKB/Swiss-Prot
  O94965 UniProtKB/Swiss-Prot
  Q7Z753 UniProtKB/Swiss-Prot
  Q96CH4 UniProtKB/Swiss-Prot
  Q9NUQ0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-04 DHX30  DExH-box helicase 30  DHX30  DEAH-box helicase 30  Symbol and/or name change 5135510 APPROVED
2016-01-12 DHX30  DEAH-box helicase 30  DHX30  DEAH (Asp-Glu-Ala-His) box helicase 30  Symbol and/or name change 5135510 APPROVED
2013-07-23 DHX30  DEAH (Asp-Glu-Ala-His) box helicase 30  DHX30  DEAH (Asp-Glu-Ala-His) box polypeptide 30  Symbol and/or name change 5135510 APPROVED