DIP2A (disco interacting protein 2 homolog A) - Rat Genome Database
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Gene: DIP2A (disco interacting protein 2 homolog A) Homo sapiens
Analyze
Symbol: DIP2A
Name: disco interacting protein 2 homolog A
RGD ID: 1319135
Description: Predicted to have catalytic activity. Involved in negative regulation of gene expression and regulation of apoptotic process. Localizes to cell surface.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C21orf106; chromosome 21 open reading frame 106; DIP2; DIP2 disco-interacting protein 2 homolog A; DIP2 homolog A; disco-interacting protein 2 homolog A; disco-interacting protein 2A
Orthologs:
Mus musculus (house mouse) : Dip2a (disco interacting protein 2 homolog A)  MGI  Alliance
Rattus norvegicus (Norway rat) : Dip2a (disco-interacting protein 2 homolog A)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Dip2a (disco interacting protein 2 homolog A)
Pan paniscus (bonobo/pygmy chimpanzee) : DIP2A (disco interacting protein 2 homolog A)
Canis lupus familiaris (dog) : DIP2A (disco interacting protein 2 homolog A)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Dip2a (disco interacting protein 2 homolog A)
Sus scrofa (pig) : DIP2A (disco interacting protein 2 homolog A)
Chlorocebus sabaeus (African green monkey) : DIP2A (disco interacting protein 2 homolog A)
Heterocephalus glaber (naked mole-rat) : Dip2a (disco interacting protein 2 homolog A)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,458,891 - 46,570,015 (+)EnsemblGRCh38hg38GRCh38
GRCh382146,458,891 - 46,571,226 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,878,862 - 47,989,926 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,703,318 - 46,813,028 (+)NCBINCBI36hg18NCBI36
Celera2132,992,036 - 33,103,092 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2133,258,778 - 33,369,843 (+)NCBIHuRef
CHM1_12147,439,710 - 47,550,763 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cell surface  (IBA,IDA)
membrane  (IDA)
nucleus  (IEA)

Molecular Function

References

Additional References at PubMed
PMID:8724849   PMID:11675124   PMID:11812785   PMID:12036298   PMID:12137943   PMID:12477932   PMID:14637006   PMID:14702039   PMID:15489334   PMID:16344560   PMID:17236128   PMID:18218781  
PMID:18521840   PMID:20054002   PMID:20860622   PMID:21873635   PMID:22658674   PMID:23455924   PMID:24643514   PMID:25363768   PMID:25416956   PMID:26186194   PMID:26452339   PMID:28065597  
PMID:28514442   PMID:28986522   PMID:29568061   PMID:29676528   PMID:30021884   PMID:30110636   PMID:30542120   PMID:32296183  


Genomics

Comparative Map Data
DIP2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,458,891 - 46,570,015 (+)EnsemblGRCh38hg38GRCh38
GRCh382146,458,891 - 46,571,226 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,878,862 - 47,989,926 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,703,318 - 46,813,028 (+)NCBINCBI36hg18NCBI36
Celera2132,992,036 - 33,103,092 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2133,258,778 - 33,369,843 (+)NCBIHuRef
CHM1_12147,439,710 - 47,550,763 (+)NCBICHM1_1
Dip2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,098,581 - 76,181,194 (-)NCBI
GRCm381076,263,034 - 76,345,360 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,259,429 - 76,345,291 (-)EnsemblGRCm38mm10GRCm38
MGSCv371075,725,794 - 75,808,007 (-)NCBIGRCm37mm9NCBIm37
MGSCv361075,706,062 - 75,788,978 (-)NCBImm8
Celera1077,306,976 - 77,389,563 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1038.76NCBI
Dip2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02013,044,056 - 13,127,971 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2013,044,104 - 13,127,487 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02015,201,168 - 15,285,083 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42012,700,337 - 12,788,775 (+)NCBIRGSC3.4rn4RGSC3.4
Celera2013,781,859 - 13,864,611 (+)NCBICelera
Cytogenetic Map20p12NCBI
Dip2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540742,857,344 - 42,959,265 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540742,857,297 - 42,961,831 (+)NCBIChiLan1.0ChiLan1.0
DIP2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12146,060,713 - 46,168,885 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2146,060,713 - 46,168,885 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02132,921,019 - 33,034,988 (+)NCBI
DIP2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3139,686,465 - 39,777,484 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13139,695,620 - 39,778,527 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dip2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493677849,130 - 123,345 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DIP2A
(Sus scrofa - pig)
No map positions available.
DIP2A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl290,059,346 - 90,167,019 (+)Ensembl
ChlSab1.1290,058,331 - 90,167,278 (+)NCBI
Dip2a
(Heterocephalus glaber - naked mole-rat)
No map positions available.

Position Markers
D21S2058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,968,032 - 47,968,217UniSTSGRCh37
Build 362146,792,460 - 46,792,645RGDNCBI36
Celera2133,081,199 - 33,081,384RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,347,952 - 33,348,137UniSTS
Marshfield Genetic Map2157.77UniSTS
Marshfield Genetic Map2157.77RGD
GeneMap99-GB4 RH Map21252.09UniSTS
Whitehead-RH Map21244.4UniSTS
NCBI RH Map21407.7UniSTS
D21S1271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,952,891 - 47,953,006UniSTSGRCh37
Build 362146,777,319 - 46,777,434RGDNCBI36
Celera2133,066,058 - 33,066,173RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,332,811 - 33,332,926UniSTS
SHGC-170321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,898,894 - 47,899,235UniSTSGRCh37
Build 362146,723,322 - 46,723,663RGDNCBI36
Celera2133,012,068 - 33,012,409RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,278,823 - 33,279,164UniSTS
TNG Radiation Hybrid Map2120066.0UniSTS
SHGC-170322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,902,615 - 47,902,805UniSTSGRCh37
Build 362146,727,043 - 46,727,233RGDNCBI36
Celera2133,015,789 - 33,015,979RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,282,544 - 33,282,734UniSTS
TNG Radiation Hybrid Map2120071.0UniSTS
SHGC-37479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,985,450 - 47,985,598UniSTSGRCh37
Build 362146,809,878 - 46,810,026RGDNCBI36
Celera2133,098,616 - 33,098,764RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,365,367 - 33,365,515UniSTS
TNG Radiation Hybrid Map2120099.0UniSTS
GeneMap99-G3 RH Map211592.0UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
RH36905  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map3q12.2-q12.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q12-q13.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map10q25-q26UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map16q22.1UniSTS
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
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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

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4388
Count of miRNA genes:1100
Interacting mature miRNAs:1379
Transcripts:ENST00000318711, ENST00000400274, ENST00000417564, ENST00000427143, ENST00000435722, ENST00000457905, ENST00000466639, ENST00000472364, ENST00000473752, ENST00000478105, ENST00000479654, ENST00000480553, ENST00000481883, ENST00000494435
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2164 1728 1218 193 945 40 3506 1112 2309 145 1334 1441 166 1 1135 2068 4 2
Low 275 1262 507 430 1005 424 851 1085 1425 274 126 172 9 69 720 2
Below cutoff 1 1 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB273729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF432263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF490768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE876989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF509590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ017399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX410051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK821329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA326960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000400274   ⟹   ENSP00000383133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,458,899 - 46,569,708 (+)Ensembl
RefSeq Acc Id: ENST00000417564   ⟹   ENSP00000392066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,458,891 - 46,570,015 (+)Ensembl
RefSeq Acc Id: ENST00000435722   ⟹   ENSP00000415089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,459,057 - 46,547,205 (+)Ensembl
RefSeq Acc Id: ENST00000457905   ⟹   ENSP00000393434
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,458,950 - 46,550,110 (+)Ensembl
RefSeq Acc Id: ENST00000466639   ⟹   ENSP00000430249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,458,977 - 46,547,205 (+)Ensembl
RefSeq Acc Id: ENST00000472364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,552,911 - 46,558,738 (+)Ensembl
RefSeq Acc Id: ENST00000473752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,504,313 - 46,545,205 (+)Ensembl
RefSeq Acc Id: ENST00000478105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,561,285 - 46,569,708 (+)Ensembl
RefSeq Acc Id: ENST00000479654
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,563,660 - 46,569,708 (+)Ensembl
RefSeq Acc Id: ENST00000480553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,538,735 - 46,547,205 (+)Ensembl
RefSeq Acc Id: ENST00000481883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,555,519 - 46,559,106 (+)Ensembl
RefSeq Acc Id: ENST00000494435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,504,380 - 46,546,304 (+)Ensembl
RefSeq Acc Id: ENST00000651436   ⟹   ENSP00000498874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,458,895 - 46,569,585 (+)Ensembl
RefSeq Acc Id: NM_001146115   ⟹   NP_001139587
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,891 - 46,547,207 (+)NCBI
GRCh372147,878,862 - 47,989,926 (+)RGD
Celera2132,992,036 - 33,103,092 (+)RGD
HuRef2133,258,778 - 33,369,843 (+)RGD
CHM1_12147,439,710 - 47,527,961 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001146116   ⟹   NP_001139588
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,891 - 46,570,015 (+)NCBI
GRCh372147,878,862 - 47,989,926 (+)RGD
Celera2132,992,036 - 33,103,092 (+)RGD
HuRef2133,258,778 - 33,369,843 (+)RGD
CHM1_12147,439,710 - 47,550,763 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353942   ⟹   NP_001340871
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,891 - 46,570,015 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353943   ⟹   NP_001340872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,891 - 46,571,226 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353944   ⟹   NP_001340873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,891 - 46,547,207 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015151   ⟹   NP_055966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,891 - 46,570,015 (+)NCBI
GRCh372147,878,862 - 47,989,926 (+)RGD
Build 362146,703,318 - 46,813,028 (+)NCBI Archive
Celera2132,992,036 - 33,103,092 (+)RGD
HuRef2133,258,778 - 33,369,843 (+)RGD
CHM1_12147,439,710 - 47,550,763 (+)NCBI
Sequence:
RefSeq Acc Id: NM_206889   ⟹   NP_996772
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,891 - 46,550,106 (+)NCBI
GRCh372147,878,862 - 47,989,926 (+)RGD
Build 362146,703,318 - 46,794,451 (+)NCBI Archive
Celera2132,992,036 - 33,103,092 (+)RGD
HuRef2133,258,778 - 33,369,843 (+)RGD
CHM1_12147,439,710 - 47,530,864 (+)NCBI
Sequence:
RefSeq Acc Id: NM_206890   ⟹   NP_996773
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,891 - 46,547,207 (+)NCBI
GRCh372147,878,862 - 47,989,926 (+)RGD
Build 362146,703,318 - 46,791,548 (+)NCBI Archive
Celera2132,992,036 - 33,103,092 (+)RGD
HuRef2133,258,778 - 33,369,843 (+)RGD
CHM1_12147,439,710 - 47,527,961 (+)NCBI
Sequence:
RefSeq Acc Id: NM_206891   ⟹   NP_996774
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,891 - 46,546,306 (+)NCBI
GRCh372147,878,862 - 47,989,926 (+)RGD
Build 362146,703,318 - 46,790,647 (+)NCBI Archive
Celera2132,992,036 - 33,103,092 (+)RGD
HuRef2133,258,778 - 33,369,843 (+)RGD
CHM1_12147,439,710 - 47,527,060 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529492   ⟹   XP_011527794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,570,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529501   ⟹   XP_011527803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,556,443 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529502   ⟹   XP_011527804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,550,106 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028291   ⟹   XP_016883780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,570,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028292   ⟹   XP_016883781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,570,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028293   ⟹   XP_016883782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,570,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028294   ⟹   XP_016883783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,949 - 46,570,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028295   ⟹   XP_016883784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,949 - 46,570,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028297   ⟹   XP_016883786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,570,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028298   ⟹   XP_016883787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,949 - 46,570,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028299   ⟹   XP_016883788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,570,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028300   ⟹   XP_016883789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,570,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028301   ⟹   XP_016883790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,570,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028302   ⟹   XP_016883791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,949 - 46,570,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028303   ⟹   XP_016883792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,563,915 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028304   ⟹   XP_016883793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,563,909 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028305   ⟹   XP_016883794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,942 - 46,555,997 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001139587 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139588 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340871 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340872 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340873 (Get FASTA)   NCBI Sequence Viewer  
  NP_055966 (Get FASTA)   NCBI Sequence Viewer  
  NP_996772 (Get FASTA)   NCBI Sequence Viewer  
  NP_996773 (Get FASTA)   NCBI Sequence Viewer  
  NP_996774 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527794 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527803 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527804 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883780 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883781 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883782 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883783 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883784 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883786 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883787 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883788 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883789 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883790 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883791 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883792 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883793 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883794 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH33718 (Get FASTA)   NCBI Sequence Viewer  
  AAH38443 (Get FASTA)   NCBI Sequence Viewer  
  AAL28109 (Get FASTA)   NCBI Sequence Viewer  
  AAM18046 (Get FASTA)   NCBI Sequence Viewer  
  BAB71268 (Get FASTA)   NCBI Sequence Viewer  
  BAC05266 (Get FASTA)   NCBI Sequence Viewer  
  BAF69070 (Get FASTA)   NCBI Sequence Viewer  
  BAG64412 (Get FASTA)   NCBI Sequence Viewer  
  CAB70868 (Get FASTA)   NCBI Sequence Viewer  
  EAX09271 (Get FASTA)   NCBI Sequence Viewer  
  EAX09272 (Get FASTA)   NCBI Sequence Viewer  
  EAX09273 (Get FASTA)   NCBI Sequence Viewer  
  EAX09274 (Get FASTA)   NCBI Sequence Viewer  
  EAX09275 (Get FASTA)   NCBI Sequence Viewer  
  Q14689 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_055966   ⟸   NM_015151
- Peptide Label: isoform a
- UniProtKB: Q14689 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139588   ⟸   NM_001146116
- Peptide Label: isoform g
- UniProtKB: Q14689 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_996772   ⟸   NM_206889
- Peptide Label: isoform b
- UniProtKB: Q14689 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_996773   ⟸   NM_206890
- Peptide Label: isoform c
- UniProtKB: Q14689 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139587   ⟸   NM_001146115
- Peptide Label: isoform f
- UniProtKB: Q14689 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_996774   ⟸   NM_206891
- Peptide Label: isoform d
- UniProtKB: Q14689 (UniProtKB/Swiss-Prot),   Q96NX2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527794   ⟸   XM_011529492
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011527803   ⟸   XM_011529501
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011527804   ⟸   XM_011529502
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016883789   ⟸   XM_017028300
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016883790   ⟸   XM_017028301
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016883780   ⟸   XM_017028291
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016883781   ⟸   XM_017028292
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016883782   ⟸   XM_017028293
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016883786   ⟸   XM_017028297
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016883788   ⟸   XM_017028299
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016883791   ⟸   XM_017028302
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016883792   ⟸   XM_017028303
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016883793   ⟸   XM_017028304
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016883794   ⟸   XM_017028305
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016883783   ⟸   XM_017028294
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016883784   ⟸   XM_017028295
- Peptide Label: isoform X4
- UniProtKB: Q14689 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016883787   ⟸   XM_017028298
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001340872   ⟸   NM_001353943
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001340871   ⟸   NM_001353942
- Peptide Label: isoform h
- Sequence:
RefSeq Acc Id: NP_001340873   ⟸   NM_001353944
- Peptide Label: isoform i
- Sequence:
RefSeq Acc Id: ENSP00000430249   ⟸   ENST00000466639
RefSeq Acc Id: ENSP00000383133   ⟸   ENST00000400274
RefSeq Acc Id: ENSP00000498874   ⟸   ENST00000651436
RefSeq Acc Id: ENSP00000392066   ⟸   ENST00000417564
RefSeq Acc Id: ENSP00000393434   ⟸   ENST00000457905
RefSeq Acc Id: ENSP00000415089   ⟸   ENST00000435722
Promoters
RGD ID:13603102
Promoter ID:EPDNEW_H27735
Type:initiation region
Name:DIP2A_1
Description:disco interacting protein 2 homolog A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27736  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,458,895 - 46,458,955EPDNEW
RGD ID:13603104
Promoter ID:EPDNEW_H27736
Type:initiation region
Name:DIP2A_2
Description:disco interacting protein 2 homolog A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27735  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,459,002 - 46,459,062EPDNEW
RGD ID:6799630
Promoter ID:HG_KWN:41321
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:ENST00000318711,   ENST00000358985,   ENST00000400274,   NM_001146114,   NM_015151,   OTTHUMT00000207432,   UC002ZJK.1,   UC002ZJL.1,   UC002ZJM.1,   UC010GQL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,702,869 - 46,703,369 (-)MPROMDB
RGD ID:6799393
Promoter ID:HG_KWN:41323
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000207435,   UC002ZJP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,748,459 - 46,748,959 (+)MPROMDB
RGD ID:6799407
Promoter ID:HG_KWN:41326
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   NB4
Transcripts:UC002ZJQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,782,296 - 46,784,297 (+)MPROMDB
RGD ID:6799394
Promoter ID:HG_KWN:41327
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:UC002ZJR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,796,346 - 46,798,532 (+)MPROMDB
RGD ID:6799388
Promoter ID:HG_KWN:41328
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000207439
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,798,636 - 46,799,136 (+)MPROMDB
RGD ID:6799391
Promoter ID:HG_KWN:41329
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000207440
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,805,646 - 46,806,146 (+)MPROMDB
RGD ID:6799392
Promoter ID:HG_KWN:41330
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000207441
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,806,851 - 46,807,351 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:46214279-46670405)x1 copy number loss See cases [RCV000050919] Chr21:46214279..46670405 [GRCh38]
Chr21:47634193..48090317 [GRCh37]
Chr21:46458621..46914745 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45085281-46670546)x1 copy number loss See cases [RCV000052841] Chr21:45085281..46670546 [GRCh38]
Chr21:46505196..48090458 [GRCh37]
Chr21:45329624..46914886 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1 copy number loss See cases [RCV000052842] Chr21:45110477..46648012 [GRCh38]
Chr21:46530392..48067924 [GRCh37]
Chr21:45354820..46892352 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1 copy number loss See cases [RCV000052864] Chr21:45138321..46670405 [GRCh38]
Chr21:46558236..48090317 [GRCh37]
Chr21:45382664..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1 copy number loss See cases [RCV000052866] Chr21:45801860..46670405 [GRCh38]
Chr21:47221774..48090317 [GRCh37]
Chr21:46046202..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45471378-46670405)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|See cases [RCV000053073] Chr21:45471378..46670405 [GRCh38]
Chr21:46891292..48090317 [GRCh37]
Chr21:45715720..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:46567187-46603068)x3 copy number gain See cases [RCV000135530] Chr21:46567187..46603068 [GRCh38]
Chr21:47987100..48022981 [GRCh37]
Chr21:46811528..46847409 [NCBI36]
Chr21:21q22.3
benign
GRCh38/hg38 21q22.3(chr21:46567187-46603068)x1 copy number loss See cases [RCV000135531] Chr21:46567187..46603068 [GRCh38]
Chr21:47987100..48022981 [GRCh37]
Chr21:46811528..46847409 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3 copy number gain See cases [RCV000137820] Chr21:45877354..46543273 [GRCh38]
Chr21:47297268..47963186 [GRCh37]
Chr21:46121696..46787614 [NCBI36]
Chr21:21q22.3
likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:46416432-46568690)x3 copy number gain See cases [RCV000139701] Chr21:46416432..46568690 [GRCh38]
Chr21:47836346..47988603 [GRCh37]
Chr21:46660774..46813031 [NCBI36]
Chr21:21q22.3
likely benign
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1 copy number loss See cases [RCV000141901] Chr21:45903036..46677460 [GRCh38]
Chr21:47322950..48097372 [GRCh37]
Chr21:46147378..46921800 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_015151.4(DIP2A):c.2637+17G>A single nucleotide variant Long QT syndrome [RCV000190197] Chr21:46549902 [GRCh38]
Chr21:47969815 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1 copy number loss See cases [RCV000239957] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1 copy number loss See cases [RCV000240055] Chr21:47550596..48080926 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 copy number gain See cases [RCV000240574] Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_015151.4(DIP2A):c.1677G>A (p.Arg559=) single nucleotide variant not provided [RCV000733340] Chr21:46537258 [GRCh38]
Chr21:47957171 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1 copy number loss See cases [RCV000449447] Chr21:46955240..48080867 [GRCh37]
Chr21:21q22.3
likely pathogenic|uncertain significance
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47910474-48080867)x1 copy number loss See cases [RCV000447251] Chr21:47910474..48080867 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 copy number loss See cases [RCV000448877] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
Single allele deletion Axenfeld-Rieger syndrome type 3 [RCV000677943] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-48004323)x3 copy number gain not provided [RCV000684146] Chr21:47563979..48004323 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47678065-47886671)x1 copy number loss not provided [RCV000684138] Chr21:47678065..47886671 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3
likely pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47494789-48117896)x3 copy number gain not provided [RCV000741649] Chr21:47494789..48117896 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47808772-47905496)x3 copy number gain not provided [RCV000741675] Chr21:47808772..47905496 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47898033-47925991)x1 copy number loss not provided [RCV000741684] Chr21:47898033..47925991 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47982652-48050388)x3 copy number gain not provided [RCV000741685] Chr21:47982652..48050388 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47984563-48050388)x3 copy number gain not provided [RCV000741686] Chr21:47984563..48050388 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47984563-48052169)x3 copy number gain not provided [RCV000741687] Chr21:47984563..48052169 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_015151.4(DIP2A):c.999G>A (p.Pro333=) single nucleotide variant not provided [RCV000962765] Chr21:46511511 [GRCh38]
Chr21:47931424 [GRCh37]
Chr21:21q22.3
benign
NM_015151.4(DIP2A):c.4593G>A (p.Val1531=) single nucleotide variant not provided [RCV000950024] Chr21:46567499 [GRCh38]
Chr21:47987412 [GRCh37]
Chr21:21q22.3
benign
NM_015151.4(DIP2A):c.1374C>T (p.Asp458=) single nucleotide variant not provided [RCV000926896] Chr21:46533592 [GRCh38]
Chr21:47953505 [GRCh37]
Chr21:21q22.3
likely benign
NM_015151.4(DIP2A):c.2544C>T (p.Thr848=) single nucleotide variant not provided [RCV000879252] Chr21:46549792 [GRCh38]
Chr21:47969705 [GRCh37]
Chr21:21q22.3
benign
NM_015151.4(DIP2A):c.3684C>T (p.Asn1228=) single nucleotide variant not provided [RCV000900184] Chr21:46557639 [GRCh38]
Chr21:47977552 [GRCh37]
Chr21:21q22.3
benign
NM_015151.4(DIP2A):c.3388+10C>T single nucleotide variant not provided [RCV000881269] Chr21:46554943 [GRCh38]
Chr21:47974856 [GRCh37]
Chr21:21q22.3
likely benign
NM_015151.4(DIP2A):c.1021C>T (p.Arg341Cys) single nucleotide variant not provided [RCV000938987] Chr21:46511533 [GRCh38]
Chr21:47931446 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47980759-48051102)x3 copy number gain not provided [RCV000847941] Chr21:47980759..48051102 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1 copy number loss not provided [RCV001007146] Chr21:45866973..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_015151.4(DIP2A):c.1431T>G (p.Gly477=) single nucleotide variant Long QT syndrome [RCV000986213] Chr21:46534005 [GRCh38]
Chr21:47953918 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:47902097-47973961)x3 copy number gain not provided [RCV000847796] Chr21:47902097..47973961 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:47681922-48097372)x1 copy number loss not provided [RCV001007151] Chr21:47681922..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:47769158-48097372)x3 copy number gain not provided [RCV000847620] Chr21:47769158..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_015151.4(DIP2A):c.2393C>T (p.Pro798Leu) single nucleotide variant not provided [RCV000955226] Chr21:46545960 [GRCh38]
Chr21:47965873 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1 copy number loss not provided [RCV001007150] Chr21:46749869..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17217 AgrOrtholog
COSMIC DIP2A COSMIC
Ensembl Genes ENSG00000160305 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000383133 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392066 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393434 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000415089 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430249 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000498874 UniProtKB/TrEMBL
Ensembl Transcript ENST00000400274 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000417564 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000435722 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000457905 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000466639 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000651436 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.12780 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160305 GTEx
HGNC ID HGNC:17217 ENTREZGENE
Human Proteome Map DIP2A Human Proteome Map
InterPro AMP-dep_Synth/Lig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-dep_Synthh-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dip2-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DMAP1-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23181 UniProtKB/Swiss-Prot
NCBI Gene 23181 ENTREZGENE
OMIM 607711 OMIM
Pfam AMP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DMAP_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134888233 PharmGKB
PROSITE DMAP1_BIND UniProtKB/Swiss-Prot
SMART DMAP_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.189585 ENTREZGENE
UniProt A0A494C143_HUMAN UniProtKB/TrEMBL
  DIP2A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96NX2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A6P4T3 UniProtKB/Swiss-Prot
  B4E0F0 UniProtKB/Swiss-Prot
  E7EMA5 UniProtKB/Swiss-Prot
  Q8IVA3 UniProtKB/Swiss-Prot
  Q8N4S2 UniProtKB/Swiss-Prot
  Q8TD89 UniProtKB/Swiss-Prot
  Q96ML9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 DIP2A  disco interacting protein 2 homolog A  DIP2A  disco-interacting protein 2 homolog A  Symbol and/or name change 5135510 APPROVED
2015-07-14 DIP2A  disco-interacting protein 2 homolog A  DIP2A  DIP2 disco-interacting protein 2 homolog A (Drosophila)  Symbol and/or name change 5135510 APPROVED

 



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