DACH2 (dachshund family transcription factor 2) - Rat Genome Database

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Gene: DACH2 (dachshund family transcription factor 2) Homo sapiens
Analyze
Symbol: DACH2
Name: dachshund family transcription factor 2
RGD ID: 1354112
HGNC Page HGNC
Description: Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to localize to nucleus and transcription regulator complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dachshund homolog 2; FLJ31391; MGC138545
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX86,148,451 - 86,832,604 (+)EnsemblGRCh38hg38GRCh38
GRCh38X86,148,451 - 86,832,602 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X85,403,455 - 86,087,605 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X85,290,281 - 85,974,246 (+)NCBINCBI36hg18NCBI36
Build 34X85,209,769 - 85,893,735NCBI
CeleraX85,643,005 - 86,327,361 (+)NCBI
Cytogenetic MapXq21.2NCBI
HuRefX78,980,199 - 79,660,902 (+)NCBIHuRef
CHM1_1X85,297,015 - 85,980,407 (+)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:11287190   PMID:12438735   PMID:12477932   PMID:14702039   PMID:15459172   PMID:15885503   PMID:16344560   PMID:16917507   PMID:18029348   PMID:19274049   PMID:19913121   PMID:20211142  
PMID:20628086   PMID:21873635   PMID:25234129   PMID:25744029   PMID:28514442   PMID:30021884   PMID:32694731  


Genomics

Comparative Map Data
DACH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX86,148,451 - 86,832,604 (+)EnsemblGRCh38hg38GRCh38
GRCh38X86,148,451 - 86,832,602 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X85,403,455 - 86,087,605 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X85,290,281 - 85,974,246 (+)NCBINCBI36hg18NCBI36
Build 34X85,209,769 - 85,893,735NCBI
CeleraX85,643,005 - 86,327,361 (+)NCBI
Cytogenetic MapXq21.2NCBI
HuRefX78,980,199 - 79,660,902 (+)NCBIHuRef
CHM1_1X85,297,015 - 85,980,407 (+)NCBICHM1_1
Dach2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X112,207,177 - 112,746,083 (+)NCBIGRCm39mm39
GRCm39 EnsemblX112,207,207 - 112,746,083 (+)Ensembl
GRCm38X113,297,496 - 113,836,386 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX113,297,510 - 113,836,386 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X110,411,865 - 110,949,995 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X109,415,200 - 109,953,330 (+)NCBImm8
CeleraX100,156,752 - 100,698,426 (+)NCBICelera
Cytogenetic MapXE1NCBI
cM MapX49.13NCBI
Dach2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X78,718,963 - 79,018,023 (+)NCBI
Rnor_6.0 EnsemblX85,338,928 - 85,483,719 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X84,924,570 - 85,484,150 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X85,032,792 - 85,430,286 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X102,020,017 - 102,585,398 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX79,743,983 - 80,305,806 (+)NCBICelera
Cytogenetic MapXq31NCBI
Dach2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955525667,452 - 1,284,964 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955525667,452 - 1,285,776 (+)NCBIChiLan1.0ChiLan1.0
DACH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X85,327,909 - 85,999,966 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X75,219,009 - 75,892,280 (+)NCBIMhudiblu_PPA_v0panPan3
DACH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X67,552,149 - 67,699,027 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX66,928,085 - 67,699,032 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX58,289,198 - 58,454,609 (+)NCBI
ROS_Cfam_1.0X68,858,685 - 69,024,468 (+)NCBI
UMICH_Zoey_3.1X66,495,041 - 66,660,375 (+)NCBI
UNSW_CanFamBas_1.0X68,135,712 - 68,302,710 (+)NCBI
UU_Cfam_GSD_1.0X67,731,150 - 67,896,482 (+)NCBI
Dach2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X60,297,822 - 60,789,046 (+)NCBI
SpeTri2.0NW_0049365476,618,236 - 7,109,458 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DACH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX69,137,455 - 69,701,374 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X69,137,431 - 69,698,617 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X79,788,880 - 79,961,436 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DACH2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X74,919,919 - 75,591,926 (+)NCBI
Dach2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248521,295,482 - 2,097,893 (-)NCBI

Position Markers
DXS8114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,613,991 - 85,614,170UniSTSGRCh37
Build 36X85,500,647 - 85,500,826RGDNCBI36
CeleraX85,853,548 - 85,853,727RGD
Cytogenetic MapXq21.3UniSTS
Marshfield Genetic MapX57.91UniSTS
Marshfield Genetic MapX57.91RGD
Genethon Genetic MapX97.4UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS8109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,934,565 - 85,934,799UniSTSGRCh37
Build 36X85,821,221 - 85,821,455RGDNCBI36
CeleraX86,174,291 - 86,174,523RGD
Cytogenetic MapXq21.3UniSTS
HuRefX79,506,728 - 79,506,956UniSTS
Marshfield Genetic MapX57.91RGD
Marshfield Genetic MapX57.91UniSTS
Genethon Genetic MapX97.9UniSTS
deCODE Assembly MapX88.27UniSTS
Stanford-G3 RH MapX2927.0UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX530.3UniSTS
GeneMap99-G3 RH MapX2454.0UniSTS
DXS1002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,527,112 - 85,527,271UniSTSGRCh37
GRCh37X85,527,140 - 85,527,405UniSTSGRCh37
Build 36X85,413,768 - 85,413,927RGDNCBI36
CeleraX85,766,694 - 85,766,961UniSTS
CeleraX85,766,666 - 85,766,827RGD
Cytogenetic MapXq21.3UniSTS
HuRefX79,103,008 - 79,103,273UniSTS
HuRefX79,102,980 - 79,103,139UniSTS
HuRef7150,126,084 - 150,126,155UniSTS
Marshfield Genetic MapX57.91UniSTS
Marshfield Genetic MapX57.91RGD
Genethon Genetic MapX97.4UniSTS
deCODE Assembly MapX87.95UniSTS
Stanford-G3 RH MapX2910.0UniSTS
GeneMap99-GB4 RH MapX254.09UniSTS
Whitehead-RH MapX228.2UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX531.7UniSTS
GeneMap99-G3 RH MapX2437.0UniSTS
DXS7129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,436,064 - 85,436,236UniSTSGRCh37
Build 36X85,322,720 - 85,322,892RGDNCBI36
CeleraX85,675,613 - 85,675,793RGD
Cytogenetic MapXq21.3UniSTS
HuRefX79,012,669 - 79,012,857UniSTS
Whitehead-YAC Contig MapX UniSTS
RH93234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X86,087,309 - 86,087,450UniSTSGRCh37
Build 36X85,973,965 - 85,974,106RGDNCBI36
CeleraX86,327,065 - 86,327,206RGD
Cytogenetic MapXq21.3UniSTS
HuRefX79,660,606 - 79,660,747UniSTS
GeneMap99-GB4 RH MapX256.72UniSTS
RH104073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X86,056,901 - 86,057,023UniSTSGRCh37
Build 36X85,943,557 - 85,943,679RGDNCBI36
CeleraX86,296,652 - 86,296,774RGD
Cytogenetic MapXq21.3UniSTS
HuRefX79,630,198 - 79,630,320UniSTS
GeneMap99-GB4 RH MapX256.72UniSTS
DXS1168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,784,917 - 85,785,072UniSTSGRCh37
Build 36X85,671,573 - 85,671,728RGDNCBI36
CeleraX86,024,478 - 86,024,633RGD
Cytogenetic MapXq21.3UniSTS
HuRefX79,358,704 - 79,358,857UniSTS
SHGC-82623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,777,898 - 85,778,195UniSTSGRCh37
Build 36X85,664,554 - 85,664,851RGDNCBI36
CeleraX86,017,459 - 86,017,756RGD
Cytogenetic MapXq21.3UniSTS
HuRefX79,351,685 - 79,351,982UniSTS
TNG Radiation Hybrid MapX20421.0UniSTS
D11S3398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371140,701,797 - 40,701,904UniSTSGRCh37
GRCh37X85,928,525 - 85,928,632UniSTSGRCh37
Build 36X85,815,181 - 85,815,288RGDNCBI36
CeleraX86,168,251 - 86,168,358RGD
Celera1140,855,361 - 40,855,468UniSTS
Cytogenetic MapXq21.3UniSTS
HuRefX79,500,703 - 79,500,810UniSTS
HuRef1140,409,637 - 40,409,744UniSTS
SHGC-150959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,934,553 - 85,934,829UniSTSGRCh37
Build 36X85,821,209 - 85,821,485RGDNCBI36
CeleraX86,174,279 - 86,174,553RGD
Cytogenetic MapXq21.3UniSTS
HuRefX79,506,716 - 79,506,986UniSTS
TNG Radiation Hybrid Map622499.0UniSTS
TNG Radiation Hybrid MapX20467.0UniSTS
AL022464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,889,210 - 85,889,359UniSTSGRCh37
Build 36X85,775,866 - 85,776,015RGDNCBI36
CeleraX86,128,938 - 86,129,087RGD
Cytogenetic MapXq21.3UniSTS
HuRefX79,461,873 - 79,462,022UniSTS
AL022471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,745,700 - 85,745,855UniSTSGRCh37
Build 36X85,632,356 - 85,632,511RGDNCBI36
CeleraX85,985,264 - 85,985,419RGD
Cytogenetic MapXq21.3UniSTS
HuRefX79,319,673 - 79,319,828UniSTS
DXS7785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,751,767 - 85,751,855UniSTSGRCh37
Build 36X85,638,423 - 85,638,511RGDNCBI36
CeleraX85,991,331 - 85,991,419RGD
Cytogenetic MapXq21.3UniSTS
HuRefX79,325,739 - 79,325,827UniSTS
DXS6829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,745,700 - 85,745,856UniSTSGRCh37
Build 36X85,632,356 - 85,632,512RGDNCBI36
CeleraX85,985,264 - 85,985,420RGD
Cytogenetic MapXq21.3UniSTS
HuRefX79,319,673 - 79,319,829UniSTS
DACH2_4666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X86,087,175 - 86,087,769UniSTSGRCh37
Build 36X85,973,831 - 85,974,425RGDNCBI36
CeleraX86,326,931 - 86,327,525RGD
HuRefX79,660,472 - 79,661,066UniSTS
AB055268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X86,087,428 - 86,087,581UniSTSGRCh37
Build 36X85,974,084 - 85,974,237RGDNCBI36
CeleraX86,327,184 - 86,327,337RGD
HuRefX79,660,725 - 79,660,878UniSTS
DXS1002  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq21.3UniSTS
Stanford-G3 RH MapX2910.0UniSTS
NCBI RH MapX530.8UniSTS
GeneMap99-G3 RH MapX2437.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3617
Count of miRNA genes:1091
Interacting mature miRNAs:1338
Transcripts:ENST00000373125, ENST00000373131, ENST00000461604, ENST00000484479, ENST00000506327, ENST00000508860, ENST00000510272
Prediction methods:Miranda, Pita, 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
High
Medium 1 1 4 98 20 9 17
Low 19 34 153 59 15 6 465 11 2060 83 272 74 55 1 109 188
Below cutoff 2046 1717 1136 214 484 110 3503 1573 1470 144 967 1175 107 999 2362 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001139514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001139515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_053281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF428101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z95124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z95325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373125   ⟹   ENSP00000362217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX86,148,451 - 86,832,602 (+)Ensembl
RefSeq Acc Id: ENST00000373131   ⟹   ENSP00000362223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX86,148,458 - 86,832,602 (+)Ensembl
RefSeq Acc Id: ENST00000461604   ⟹   ENSP00000421509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX86,148,460 - 86,832,604 (+)Ensembl
RefSeq Acc Id: ENST00000484479   ⟹   ENSP00000422727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX86,714,652 - 86,832,602 (+)Ensembl
RefSeq Acc Id: ENST00000506327   ⟹   ENSP00000426837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX86,148,621 - 86,832,203 (+)Ensembl
RefSeq Acc Id: ENST00000508860   ⟹   ENSP00000420896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX86,262,968 - 86,832,574 (+)Ensembl
RefSeq Acc Id: ENST00000510272   ⟹   ENSP00000421919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX86,262,968 - 86,832,602 (+)Ensembl
RefSeq Acc Id: ENST00000613770   ⟹   ENSP00000478116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX86,514,264 - 86,832,602 (+)Ensembl
RefSeq Acc Id: NM_001139514   ⟹   NP_001132986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X86,148,451 - 86,832,602 (+)NCBI
GRCh37X85,403,455 - 86,087,605 (+)RGD
CeleraX85,643,005 - 86,327,361 (+)RGD
HuRefX78,980,199 - 79,660,902 (+)RGD
CHM1_1X85,297,015 - 85,980,407 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001139515   ⟹   NP_001132987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X86,262,968 - 86,832,602 (+)NCBI
GRCh37X85,403,455 - 86,087,605 (+)RGD
CeleraX85,643,005 - 86,327,361 (+)RGD
HuRefX78,980,199 - 79,660,902 (+)RGD
CHM1_1X85,412,145 - 85,980,407 (+)NCBI
Sequence:
RefSeq Acc Id: NM_053281   ⟹   NP_444511
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X86,148,451 - 86,832,602 (+)NCBI
GRCh37X85,403,455 - 86,087,605 (+)RGD
Build 36X85,290,281 - 85,974,246 (+)NCBI Archive
CeleraX85,643,005 - 86,327,361 (+)RGD
HuRefX78,980,199 - 79,660,902 (+)RGD
CHM1_1X85,297,015 - 85,980,407 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530846   ⟹   XP_011529148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X86,148,451 - 86,832,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530847   ⟹   XP_011529149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X86,148,451 - 86,832,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530848   ⟹   XP_011529150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X86,148,451 - 86,832,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029254   ⟹   XP_016884743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X86,148,451 - 86,832,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029255   ⟹   XP_016884744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X86,148,451 - 86,832,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029256   ⟹   XP_016884745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X86,148,451 - 86,832,569 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_444511   ⟸   NM_053281
- Peptide Label: isoform a
- UniProtKB: Q96NX9 (UniProtKB/Swiss-Prot),   A8K3I1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001132986   ⟸   NM_001139514
- Peptide Label: isoform b
- UniProtKB: Q96NX9 (UniProtKB/Swiss-Prot),   A8K3I1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001132987   ⟸   NM_001139515
- Peptide Label: isoform c
- UniProtKB: Q96NX9 (UniProtKB/Swiss-Prot),   A8K3I1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529149   ⟸   XM_011530847
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011529148   ⟸   XM_011530846
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529150   ⟸   XM_011530848
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016884743   ⟸   XM_017029254
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884744   ⟸   XM_017029255
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016884745   ⟸   XM_017029256
- Peptide Label: isoform X6
- UniProtKB: Q96NX9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000362217   ⟸   ENST00000373125
RefSeq Acc Id: ENSP00000362223   ⟸   ENST00000373131
RefSeq Acc Id: ENSP00000426837   ⟸   ENST00000506327
RefSeq Acc Id: ENSP00000420896   ⟸   ENST00000508860
RefSeq Acc Id: ENSP00000478116   ⟸   ENST00000613770
RefSeq Acc Id: ENSP00000422727   ⟸   ENST00000484479
RefSeq Acc Id: ENSP00000421919   ⟸   ENST00000510272
RefSeq Acc Id: ENSP00000421509   ⟸   ENST00000461604
Protein Domains
Ski_Sno

Promoters
RGD ID:6808714
Promoter ID:HG_KWN:67405
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000344497,   NM_001139514,   NM_053281,   OTTHUMT00000057409,   UC010NMQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X85,289,581 - 85,290,081 (+)MPROMDB
RGD ID:13627570
Promoter ID:EPDNEW_H29059
Type:initiation region
Name:DACH2_1
Description:dachshund family transcription factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X86,148,451 - 86,148,511EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_053281.3(DACH2):c.488+31577C>T single nucleotide variant Lung cancer [RCV000102859] ChrX:86180685 [GRCh38]
ChrX:85435689 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_053281.3(DACH2):c.488+61892G>T single nucleotide variant Lung cancer [RCV000102860] ChrX:86211001 [GRCh38]
ChrX:85466004 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_053281.3(DACH2):c.489-107778G>T single nucleotide variant Lung cancer [RCV000102861] ChrX:86269046 [GRCh38]
ChrX:85524049 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_053281.3(DACH2):c.528-51098A>C single nucleotide variant Lung cancer [RCV000102862] ChrX:86463181 [GRCh38]
ChrX:85718184 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_053281.3(DACH2):c.528-40584C>A single nucleotide variant Lung cancer [RCV000102863] ChrX:86473695 [GRCh38]
ChrX:85728698 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_053281.3(DACH2):c.528-11609C>A single nucleotide variant Lung cancer [RCV000102864] ChrX:86502670 [GRCh38]
ChrX:85757673 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_053281.3(DACH2):c.528-935C>A single nucleotide variant Lung cancer [RCV000102865] ChrX:86513344 [GRCh38]
ChrX:85768347 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_053281.3(DACH2):c.641-43633A>G single nucleotide variant Lung cancer [RCV000102866] ChrX:86607403 [GRCh38]
ChrX:85862406 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_053281.3(DACH2):c.773-14212A>G single nucleotide variant Lung cancer [RCV000102867] ChrX:86680809 [GRCh38]
ChrX:85935812 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_053281.3(DACH2):c.1241-10598T>A single nucleotide variant Lung cancer [RCV000102868] ChrX:86802258 [GRCh38]
ChrX:86057261 [GRCh37]
ChrX:Xq21.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-21.31(chrX:79372269-91308122)x1 copy number loss See cases [RCV000050772] ChrX:79372269..91308122 [GRCh38]
ChrX:78627766..90563121 [GRCh37]
ChrX:78514422..90449777 [NCBI36]
ChrX:Xq21.1-21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81762602-86457999)x1 copy number loss See cases [RCV000051707] ChrX:81762602..86457999 [GRCh38]
ChrX:81018101..85713002 [GRCh37]
ChrX:80904757..85599658 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0 copy number loss See cases [RCV000051709] ChrX:81765008..86444979 [GRCh38]
ChrX:81020507..85699982 [GRCh37]
ChrX:80907163..85586638 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1 copy number loss See cases [RCV000051670] ChrX:80329330..86150446 [GRCh38]
ChrX:79584829..85405450 [GRCh37]
ChrX:79471485..85292106 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81762601-86471468)x1 copy number loss See cases [RCV000051673] ChrX:81762601..86471468 [GRCh38]
ChrX:81018100..85726471 [GRCh37]
ChrX:80904756..85613127 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_053281.3(DACH2):c.973C>T (p.Pro325Ser) single nucleotide variant Malignant melanoma [RCV000073264] ChrX:86714589 [GRCh38]
ChrX:85969592 [GRCh37]
ChrX:85856248 [NCBI36]
ChrX:Xq21.2
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-21.31(chrX:85396423-87061496)x3 copy number gain See cases [RCV000138988] ChrX:85396423..87061496 [GRCh38]
ChrX:84651428..86316499 [GRCh37]
ChrX:84538084..86203155 [NCBI36]
ChrX:Xq21.1-21.31
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-21.31(chrX:80722314-92152619)x0 copy number loss See cases [RCV000139635] ChrX:80722314..92152619 [GRCh38]
ChrX:79977813..91407618 [GRCh37]
ChrX:79864469..91294274 [NCBI36]
ChrX:Xq21.1-21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2(chrX:85881568-86228805)x3 copy number gain See cases [RCV000142232] ChrX:85881568..86228805 [GRCh38]
ChrX:85136573..85483808 [GRCh37]
ChrX:85023229..85370464 [NCBI36]
ChrX:Xq21.2
uncertain significance
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_053281.3(DACH2):c.1261C>T (p.Pro421Ser) single nucleotide variant Abnormality of neuronal migration [RCV000201404] ChrX:86812876 [GRCh38]
ChrX:86067879 [GRCh37]
ChrX:Xq21.2
benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_053281.3(DACH2):c.1616G>A (p.Arg539His) single nucleotide variant not provided [RCV000585613] ChrX:86814766 [GRCh38]
ChrX:86069769 [GRCh37]
ChrX:Xq21.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xq21.2(chrX:85588096-86011611)x0 copy number loss not provided [RCV000684353] ChrX:85588096..86011611 [GRCh37]
ChrX:Xq21.2
likely benign
GRCh37/hg19 Xq21.2-21.31(chrX:85632742-86633326)x2 copy number gain not provided [RCV000684354] ChrX:85632742..86633326 [GRCh37]
ChrX:Xq21.2-21.31
uncertain significance
GRCh37/hg19 Xq21.2(chrX:85674945-85676945)x1 copy number loss not provided [RCV000753637] ChrX:85674945..85676945 [GRCh37]
ChrX:Xq21.2
benign
GRCh37/hg19 Xq21.2(chrX:85797122-85932574)x2 copy number gain not provided [RCV000753638] ChrX:85797122..85932574 [GRCh37]
ChrX:Xq21.2
benign
GRCh37/hg19 Xq21.2(chrX:85871362-85944590)x3 copy number gain not provided [RCV000753639] ChrX:85871362..85944590 [GRCh37]
ChrX:Xq21.2
benign
GRCh37/hg19 Xq21.2-21.31(chrX:85871362-86456938)x3 copy number gain not provided [RCV000753640] ChrX:85871362..86456938 [GRCh37]
ChrX:Xq21.2-21.31
benign
GRCh37/hg19 Xq21.2-21.31(chrX:86044208-86224601)x3 copy number gain not provided [RCV000753641] ChrX:86044208..86224601 [GRCh37]
ChrX:Xq21.2-21.31
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.2-21.31(chrX:85271998-86201736)x3 copy number gain not provided [RCV000753636] ChrX:85271998..86201736 [GRCh37]
ChrX:Xq21.2-21.31
benign
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NC_000023.10:g.(?_83372068)_(86924394_?)del deletion not provided [RCV001033923] ChrX:83372068..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NC_000023.10:g.(?_82763333)_(86890775_?)del deletion not provided [RCV001033944] ChrX:82763333..86890775 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NC_000023.10:g.(?_83126460)_(86924394_?)del deletion not provided [RCV001032392] ChrX:83126460..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NC_000023.10:g.(?_83576897)_(86924394_?)del deletion not provided [RCV001033207] ChrX:83576897..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xq21.2-21.31(chrX:85630983-86642342)x3 copy number gain not provided [RCV000846405] ChrX:85630983..86642342 [GRCh37]
ChrX:Xq21.2-21.31
uncertain significance
GRCh37/hg19 Xq21.2-21.31(chrX:85632464-86639781)x2 copy number gain not provided [RCV000846632] ChrX:85632464..86639781 [GRCh37]
ChrX:Xq21.2-21.31
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1 copy number loss not provided [RCV000847338] ChrX:74667077..90312981 [GRCh37]
ChrX:Xq13.3-21.31
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.11:g.(?_85981737)_(86149108_?)del deletion not provided [RCV001031177] ChrX:85236741..85404112 [GRCh37]
ChrX:Xq21.2
pathogenic
NC_000023.10:g.(?_85211158)_(85404112_?)dup duplication not provided [RCV001031290] ChrX:85211158..85404112 [GRCh37]
ChrX:Xq21.2
uncertain significance
NC_000023.10:g.(?_84634178)_(85404112_?)del deletion not provided [RCV001033627] ChrX:84634178..85404112 [GRCh37]
ChrX:Xq21.2
pathogenic
NC_000023.10:g.(?_85090756)_(86924394_?)del deletion not provided [RCV001032367] ChrX:85090756..86924394 [GRCh37]
ChrX:Xq21.2-21.31
pathogenic
NC_000023.10:g.(?_83372068)_(86890775_?)del deletion not provided [RCV001032728] ChrX:83372068..86890775 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NC_000023.10:g.(?_82763333)_(86924394_?)del deletion not provided [RCV001033898] ChrX:82763333..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xq21.2-21.31(chrX:85631053-86633326)x3 copy number gain not provided [RCV001259009] ChrX:85631053..86633326 [GRCh37]
ChrX:Xq21.2-21.31
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NC_000023.10:g.(?_85090756)_(85404112_?)dup duplication not provided [RCV001294971] ChrX:85090756..85404112 [GRCh37]
ChrX:Xq21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16814 AgrOrtholog
COSMIC DACH2 COSMIC
Ensembl Genes ENSG00000126733 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000362217 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362223 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000420896 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421509 UniProtKB/TrEMBL
  ENSP00000421919 UniProtKB/Swiss-Prot
  ENSP00000422727 UniProtKB/TrEMBL
  ENSP00000426837 UniProtKB/TrEMBL
  ENSP00000478116 UniProtKB/TrEMBL
Ensembl Transcript ENST00000373125 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373131 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000461604 UniProtKB/TrEMBL
  ENST00000484479 UniProtKB/TrEMBL
  ENST00000506327 UniProtKB/TrEMBL
  ENST00000508860 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000510272 UniProtKB/Swiss-Prot
  ENST00000613770 UniProtKB/TrEMBL
Gene3D-CATH 3.10.260.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000126733 GTEx
HGNC ID HGNC:16814 ENTREZGENE
Human Proteome Map DACH2 Human Proteome Map
InterPro DNA-bd_dom_put_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKI/SNO/DAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ski_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:117154 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 117154 ENTREZGENE
OMIM 300608 OMIM
Pfam Ski_Sno UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27135 PharmGKB
Superfamily-SCOP SSF46955 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTT5_HUMAN UniProtKB/TrEMBL
  A8K3I1 ENTREZGENE, UniProtKB/TrEMBL
  D6REJ4_HUMAN UniProtKB/TrEMBL
  D6RFG7_HUMAN UniProtKB/TrEMBL
  DACH2_HUMAN UniProtKB/Swiss-Prot
  H0Y912_HUMAN UniProtKB/TrEMBL
  Q1RMF5_HUMAN UniProtKB/TrEMBL
  Q96NX9 ENTREZGENE
UniProt Secondary B1AJV3 UniProtKB/Swiss-Prot
  B4DQG3 UniProtKB/Swiss-Prot
  Q8NAY3 UniProtKB/Swiss-Prot
  Q8ND17 UniProtKB/Swiss-Prot
  Q96N55 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-02-12 DACH2  dachshund family transcription factor 2  DACH2  dachshund homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED