DIAPH2 (diaphanous related formin 2) - Rat Genome Database

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Gene: DIAPH2 (diaphanous related formin 2) Homo sapiens
Analyze
Symbol: DIAPH2
Name: diaphanous related formin 2
RGD ID: 1346222
HGNC Page HGNC
Description: Predicted to have signaling receptor binding activity. Predicted to be involved in actin filament polymerization. Localizes to endoplasmic reticulum and nucleolus. Implicated in primary ovarian insufficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DIA; DIA2; diaphanous homolog 2; diaphanous-related formin 2; diaphanous-related formin-2; diaphorase-2; DRF2; FLJ11167; mDia3; POF; POF2; POF2A
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 EnsemblX96,684,663 - 97,604,997 (+)EnsemblGRCh38hg38GRCh38
GRCh38X96,684,842 - 97,604,997 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X95,939,841 - 96,859,996 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X95,826,365 - 96,746,652 (+)NCBINCBI36hg18NCBI36
Build 34X95,745,855 - 96,666,137NCBI
CeleraX96,458,012 - 97,373,277 (+)NCBI
Cytogenetic MapXq21.33NCBI
HuRefX85,739,952 - 86,659,936 (+)NCBIHuRef
CHM1_1X95,832,371 - 96,748,951 (+)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8406446   PMID:9497258   PMID:10524757   PMID:11129329   PMID:11509578   PMID:12477932   PMID:12577064   PMID:14702039   PMID:15085137   PMID:15772651   PMID:16055720   PMID:16344560  
PMID:17081983   PMID:18029348   PMID:18044991   PMID:20734064   PMID:20936779   PMID:21386871   PMID:22685410   PMID:23024796   PMID:23620398   PMID:24037343   PMID:24403606   PMID:26496610  
PMID:28760985   PMID:29507755   PMID:29596520   PMID:30258100   PMID:30593440   PMID:30793164   PMID:31240132   PMID:31253590   PMID:31536960  


Genomics

Comparative Map Data
DIAPH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX96,684,663 - 97,604,997 (+)EnsemblGRCh38hg38GRCh38
GRCh38X96,684,842 - 97,604,997 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X95,939,841 - 96,859,996 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X95,826,365 - 96,746,652 (+)NCBINCBI36hg18NCBI36
Build 34X95,745,855 - 96,666,137NCBI
CeleraX96,458,012 - 97,373,277 (+)NCBI
Cytogenetic MapXq21.33NCBI
HuRefX85,739,952 - 86,659,936 (+)NCBIHuRef
CHM1_1X95,832,371 - 96,748,951 (+)NCBICHM1_1
Diaph2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X128,650,409 - 129,366,583 (+)NCBIGRCm39mm39
GRCm39 EnsemblX128,650,491 - 129,366,583 (+)Ensembl
GRCm38X129,749,668 - 130,465,834 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX129,749,742 - 130,465,834 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X126,284,278 - 126,995,733 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X125,096,143 - 125,675,204 (+)NCBImm8
CeleraX112,642,958 - 113,350,873 (+)NCBICelera
Cytogenetic MapXE3NCBI
Diaph2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X92,395,189 - 93,234,521 (+)NCBI
Rnor_6.0X99,722,910 - 100,363,228 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X99,553,986 - 100,197,417 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X116,641,770 - 117,258,314 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX93,552,263 - 94,180,770 (+)NCBICelera
Cytogenetic MapXq31NCBI
Diaph2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555032,325,103 - 2,835,656 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555032,324,934 - 3,132,466 (+)NCBIChiLan1.0ChiLan1.0
DIAPH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X96,067,252 - 96,979,830 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX96,066,870 - 96,979,462 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X85,916,356 - 86,837,858 (+)NCBIMhudiblu_PPA_v0panPan3
DIAPH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X69,994,674 - 71,044,178 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX69,994,650 - 71,043,198 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX60,804,704 - 61,857,429 (+)NCBI
ROS_Cfam_1.0X71,343,583 - 72,392,960 (+)NCBI
UMICH_Zoey_3.1X69,016,716 - 70,066,386 (+)NCBI
UNSW_CanFamBas_1.0X70,624,006 - 71,673,290 (+)NCBI
UU_Cfam_GSD_1.0X70,255,069 - 71,304,928 (+)NCBI
Diaph2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X66,474,564 - 67,266,088 (-)NCBI
SpeTri2.0NW_0049365842,286,919 - 3,081,652 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DIAPH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX78,602,390 - 79,520,428 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X78,602,385 - 79,520,441 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X85,891,093 - 85,978,699 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DIAPH2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X85,130,928 - 86,035,944 (+)NCBI
Diaph2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248513,291,888 - 4,329,285 (+)NCBI

Position Markers
RH65880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,536,810 - 96,536,957UniSTSGRCh37
Build 36X96,423,466 - 96,423,613RGDNCBI36
CeleraX97,054,542 - 97,054,689RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,339,512 - 86,339,659UniSTS
GeneMap99-GB4 RH MapX272.43UniSTS
G31506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,725,457 - 96,725,564UniSTSGRCh37
Build 36X96,612,113 - 96,612,220RGDNCBI36
CeleraX97,243,134 - 97,243,241RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,527,517 - 86,527,624UniSTS
RH45223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,731,519 - 96,731,765UniSTSGRCh37
Build 36X96,618,175 - 96,618,421RGDNCBI36
CeleraX97,249,196 - 97,249,442RGD
Cytogenetic MapXq21.33UniSTS
DXS7923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,312,344 - 96,312,472UniSTSGRCh37
Build 36X96,199,000 - 96,199,128RGDNCBI36
CeleraX96,830,445 - 96,830,573RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,114,160 - 86,114,288UniSTS
DXS1496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,329,051 - 96,329,128UniSTSGRCh37
Build 36X96,215,707 - 96,215,784RGDNCBI36
CeleraX96,847,151 - 96,847,228RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,130,603 - 86,130,680UniSTS
DXS458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,128,616 - 96,128,803UniSTSGRCh37
Build 36X96,015,272 - 96,015,459RGDNCBI36
CeleraX96,646,713 - 96,646,896RGD
Cytogenetic MapXq21.33UniSTS
G63742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X95,939,931 - 95,940,259UniSTSGRCh37
Build 36X95,826,587 - 95,826,915RGDNCBI36
CeleraX96,458,281 - 96,458,609RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,740,221 - 85,740,549UniSTS
G63747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,185,633 - 96,185,917UniSTSGRCh37
Build 36X96,072,289 - 96,072,573RGDNCBI36
CeleraX96,703,731 - 96,704,015RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,986,496 - 85,986,780UniSTS
G63746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,192,160 - 96,192,399UniSTSGRCh37
Build 36X96,078,816 - 96,079,055RGDNCBI36
CeleraX96,710,258 - 96,710,497RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,993,023 - 85,993,262UniSTS
G63754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,194,210 - 96,194,465UniSTSGRCh37
Build 36X96,080,866 - 96,081,121RGDNCBI36
CeleraX96,712,308 - 96,712,563RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,995,073 - 85,995,329UniSTS
G63744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,200,465 - 96,200,730UniSTSGRCh37
Build 36X96,087,121 - 96,087,386RGDNCBI36
CeleraX96,718,563 - 96,718,828RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,001,594 - 86,001,859UniSTS
G63762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,203,819 - 96,204,089UniSTSGRCh37
Build 36X96,090,475 - 96,090,745RGDNCBI36
CeleraX96,721,917 - 96,722,187RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,004,949 - 86,005,219UniSTS
G63738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,220,012 - 96,220,310UniSTSGRCh37
Build 36X96,106,668 - 96,106,966RGDNCBI36
CeleraX96,738,108 - 96,738,406RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,021,338 - 86,021,636UniSTS
G63770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,330,114 - 96,330,417UniSTSGRCh37
Build 36X96,216,770 - 96,217,073RGDNCBI36
CeleraX96,848,214 - 96,848,517RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,131,666 - 86,131,969UniSTS
G63761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,327,865 - 96,328,088UniSTSGRCh37
Build 36X96,214,521 - 96,214,744RGDNCBI36
CeleraX96,845,965 - 96,846,188RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,129,417 - 86,129,640UniSTS
G63766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,354,560 - 96,354,850UniSTSGRCh37
Build 36X96,241,216 - 96,241,506RGDNCBI36
CeleraX96,872,667 - 96,872,957RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,156,098 - 86,156,388UniSTS
G63767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X95,990,699 - 95,990,872UniSTSGRCh37
Build 36X95,877,355 - 95,877,528RGDNCBI36
CeleraX96,508,828 - 96,509,001RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,791,474 - 85,791,647UniSTS
G63760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,369,626 - 96,370,028UniSTSGRCh37
Build 36X96,256,282 - 96,256,684RGDNCBI36
CeleraX96,887,733 - 96,888,135RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,171,198 - 86,171,600UniSTS
G63759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,502,635 - 96,502,903UniSTSGRCh37
Build 36X96,389,291 - 96,389,559RGDNCBI36
CeleraX97,020,362 - 97,020,630RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,305,885 - 86,306,153UniSTS
G63737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,603,064 - 96,603,332UniSTSGRCh37
Build 36X96,489,720 - 96,489,988RGDNCBI36
CeleraX97,120,795 - 97,121,063RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,405,386 - 86,405,654UniSTS
G63757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,638,928 - 96,639,195UniSTSGRCh37
Build 36X96,525,584 - 96,525,851RGDNCBI36
CeleraX97,156,606 - 97,156,873RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,441,012 - 86,441,279UniSTS
G63756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,684,593 - 96,684,885UniSTSGRCh37
Build 36X96,571,249 - 96,571,541RGDNCBI36
CeleraX97,202,269 - 97,202,561RGD
Cytogenetic MapXq21.33UniSTS
G63755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,724,613 - 96,724,789UniSTSGRCh37
Build 36X96,611,269 - 96,611,445RGDNCBI36
CeleraX97,242,290 - 97,242,466RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,526,674 - 86,526,850UniSTS
G63769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,854,169 - 96,854,492UniSTSGRCh37
Build 36X96,740,825 - 96,741,148RGDNCBI36
CeleraX97,371,849 - 97,372,172RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,658,507 - 86,658,830UniSTS
G63741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X95,993,493 - 95,993,854UniSTSGRCh37
Build 36X95,880,149 - 95,880,510RGDNCBI36
CeleraX96,511,622 - 96,511,983RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,794,268 - 85,794,629UniSTS
G63768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,856,091 - 96,856,526UniSTSGRCh37
Build 36X96,742,747 - 96,743,182RGDNCBI36
CeleraX97,373,771 - 97,374,206RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,660,433 - 86,660,868UniSTS
G63748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,013,031 - 96,013,352UniSTSGRCh37
Build 36X95,899,687 - 95,900,008RGDNCBI36
CeleraX96,531,158 - 96,531,479RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,814,394 - 85,814,715UniSTS
G63740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,136,353 - 96,136,831UniSTSGRCh37
Build 36X96,023,009 - 96,023,487RGDNCBI36
CeleraX96,654,446 - 96,654,924RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,937,240 - 85,937,718UniSTS
G63749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,167,214 - 96,167,532UniSTSGRCh37
Build 36X96,053,870 - 96,054,188RGDNCBI36
CeleraX96,685,312 - 96,685,630RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,968,011 - 85,968,329UniSTS
G63739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,167,382 - 96,167,603UniSTSGRCh37
Build 36X96,054,038 - 96,054,259RGDNCBI36
CeleraX96,685,480 - 96,685,701RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,968,179 - 85,968,400UniSTS
G63750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,173,438 - 96,173,688UniSTSGRCh37
Build 36X96,060,094 - 96,060,344RGDNCBI36
CeleraX96,691,536 - 96,691,786RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,974,355 - 85,974,605UniSTS
G65273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,396,523 - 96,396,848UniSTSGRCh37
Build 36X96,283,179 - 96,283,504RGDNCBI36
CeleraX96,914,637 - 96,914,962RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,198,111 - 86,198,436UniSTS
G65253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,857,396 - 96,857,760UniSTSGRCh37
Build 36X96,744,052 - 96,744,416RGDNCBI36
CeleraX97,375,076 - 97,375,440RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,661,738 - 86,662,102UniSTS
G65269  
Human AssemblyChrPosition (strand)SourceJBrowse
CeleraX97,375,358 - 97,375,844RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,662,020 - 86,662,506UniSTS
G65270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,858,484 - 96,858,948UniSTSGRCh37
Build 36X96,745,140 - 96,745,604RGDNCBI36
CeleraX97,376,166 - 97,376,630RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,662,828 - 86,663,292UniSTS
G65261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,858,805 - 96,859,216UniSTSGRCh37
Build 36X96,745,461 - 96,745,872RGDNCBI36
CeleraX97,376,487 - 97,376,898RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,663,149 - 86,663,560UniSTS
G65258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,859,156 - 96,859,557UniSTSGRCh37
Build 36X96,745,812 - 96,746,213RGDNCBI36
CeleraX97,376,838 - 97,377,239RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,663,500 - 86,663,901UniSTS
G65254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,859,415 - 96,859,900UniSTSGRCh37
Build 36X96,746,071 - 96,746,556RGDNCBI36
CeleraX97,377,097 - 97,377,582RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,663,759 - 86,664,244UniSTS
G65267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,855,189 - 96,855,542UniSTSGRCh37
Build 36X96,741,845 - 96,742,198RGDNCBI36
CeleraX97,372,869 - 97,373,222RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,659,528 - 86,659,881UniSTS
G65274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,855,440 - 96,855,964UniSTSGRCh37
Build 36X96,742,096 - 96,742,620RGDNCBI36
CeleraX97,373,120 - 97,373,644RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,659,779 - 86,660,306UniSTS
G65276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,855,825 - 96,856,245UniSTSGRCh37
Build 36X96,742,481 - 96,742,901RGDNCBI36
CeleraX97,373,505 - 97,373,925RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,660,167 - 86,660,587UniSTS
G65263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,856,478 - 96,856,952UniSTSGRCh37
Build 36X96,743,134 - 96,743,608RGDNCBI36
CeleraX97,374,158 - 97,374,632RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,660,820 - 86,661,294UniSTS
G65272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,856,817 - 96,857,275UniSTSGRCh37
Build 36X96,743,473 - 96,743,931RGDNCBI36
CeleraX97,374,497 - 97,374,955RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,661,159 - 86,661,617UniSTS
SHGC-103641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,715,791 - 96,716,084UniSTSGRCh37
Build 36X96,602,447 - 96,602,740RGDNCBI36
CeleraX97,233,467 - 97,233,760RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,517,499 - 86,517,792UniSTS
RH36105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,403,872 - 96,403,975UniSTSGRCh37
Build 36X96,290,528 - 96,290,631RGDNCBI36
CeleraX96,921,989 - 96,922,092RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,205,723 - 86,205,826UniSTS
GeneMap99-GB4 RH MapX272.37UniSTS
SHGC-142364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,727,599 - 96,727,919UniSTSGRCh37
Build 36X96,614,255 - 96,614,575RGDNCBI36
CeleraX97,245,276 - 97,245,596RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,529,658 - 86,529,978UniSTS
RH36249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,438,599 - 96,438,714UniSTSGRCh37
Build 36X96,325,255 - 96,325,370RGDNCBI36
CeleraX96,956,705 - 96,956,820RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,242,220 - 86,242,335UniSTS
GeneMap99-GB4 RH MapX272.37UniSTS
RH70584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,140,122 - 96,140,305UniSTSGRCh37
Build 36X96,026,778 - 96,026,961RGDNCBI36
CeleraX96,658,215 - 96,658,398RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,940,973 - 85,941,156UniSTS
GeneMap99-GB4 RH MapX272.37UniSTS
WI-11708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,505,775 - 96,505,924UniSTSGRCh37
Build 36X96,392,431 - 96,392,580RGDNCBI36
CeleraX97,023,502 - 97,023,651RGD
Cytogenetic MapXq21.33UniSTS
HuRefX86,309,025 - 86,309,174UniSTS
GeneMap99-GB4 RH MapX272.43UniSTS
Whitehead-RH MapX255.7UniSTS
AL022455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,148,580 - 96,148,736UniSTSGRCh37
Build 36X96,035,236 - 96,035,392RGDNCBI36
CeleraX96,666,683 - 96,666,839RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,949,449 - 85,949,605UniSTS
L77838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,022,621 - 96,022,695UniSTSGRCh37
Build 36X95,909,277 - 95,909,351RGDNCBI36
CeleraX96,540,744 - 96,540,818RGD
Cytogenetic MapXq21.33UniSTS
HuRefX85,824,408 - 85,824,482UniSTS
HSU24186__6606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,139,669 - 96,140,511UniSTSGRCh37
Build 36X96,026,325 - 96,027,167RGDNCBI36
CeleraX96,657,762 - 96,658,604RGD
ha2854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373191,222,361 - 191,222,596UniSTSGRCh37
Celera3189,651,135 - 189,651,370UniSTS
HuRefX86,433,253 - 86,433,542UniSTS
HuRef3188,622,290 - 188,622,525UniSTS
G65262  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq21.33UniSTS
DIAPH2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X96,369,833 - 96,369,939UniSTSGRCh37
CeleraX96,887,940 - 96,888,046UniSTS
HuRefX86,171,405 - 86,171,511UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3519
Count of miRNA genes:1211
Interacting mature miRNAs:1523
Transcripts:ENST00000324765, ENST00000355827, ENST00000373049, ENST00000373054, ENST00000373061
Prediction methods:Miranda, Pita, Pita,Targetscan, 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 1045 1292 75 34 297 33 1965 807 410 118 680 537 3 874 1130 2
Low 1391 1680 1646 587 1625 429 2389 1374 2886 300 769 1037 167 1 330 1658 4 2
Below cutoff 1 19 2 1 17 1 1 13 434 1 4 18 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK002029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL669876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW276516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX363708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS185577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB062196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX533476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U69179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324765   ⟹   ENSP00000321348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX96,684,842 - 97,604,997 (+)Ensembl
RefSeq Acc Id: ENST00000355827   ⟹   ENSP00000348082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX96,684,663 - 97,469,838 (+)Ensembl
RefSeq Acc Id: ENST00000373049   ⟹   ENSP00000362140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX96,684,712 - 97,469,835 (+)Ensembl
RefSeq Acc Id: ENST00000373054   ⟹   ENSP00000362145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX96,685,017 - 97,469,765 (+)Ensembl
RefSeq Acc Id: ENST00000373061   ⟹   ENSP00000362152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX96,684,663 - 97,600,598 (+)Ensembl
RefSeq Acc Id: NM_006729   ⟹   NP_006720
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X96,684,842 - 97,604,997 (+)NCBI
GRCh37X95,939,650 - 96,855,597 (+)NCBI
Build 36X95,826,365 - 96,746,652 (+)NCBI Archive
CeleraX96,458,012 - 97,373,277 (+)RGD
HuRefX85,739,952 - 86,659,936 (+)ENTREZGENE
CHM1_1X95,832,371 - 96,748,951 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007309   ⟹   NP_009293
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X96,684,842 - 97,469,836 (+)NCBI
GRCh37X95,939,650 - 96,855,597 (+)NCBI
Build 36X95,826,365 - 96,611,491 (+)NCBI Archive
CeleraX96,458,012 - 97,373,277 (+)RGD
HuRefX85,739,952 - 86,659,936 (+)ENTREZGENE
CHM1_1X95,832,371 - 96,618,146 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006720   ⟸   NM_006729
- Peptide Label: isoform 156
- UniProtKB: O60879 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_009293   ⟸   NM_007309
- Peptide Label: isoform 12C
- UniProtKB: O60879 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000362140   ⟸   ENST00000373049
RefSeq Acc Id: ENSP00000362145   ⟸   ENST00000373054
RefSeq Acc Id: ENSP00000362152   ⟸   ENST00000373061
RefSeq Acc Id: ENSP00000321348   ⟸   ENST00000324765
RefSeq Acc Id: ENSP00000348082   ⟸   ENST00000355827
Protein Domains
DAD   FH1   FH2   GBD/FH3

Promoters
RGD ID:6808620
Promoter ID:HG_KWN:67447
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000355827,   ENST00000373054,   ENST00000373061,   NM_007309,   OTTHUMT00000058871,   UC004EFS.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X95,825,831 - 95,826,587 (+)MPROMDB
RGD ID:13627578
Promoter ID:EPDNEW_H29064
Type:initiation region
Name:DIAPH2_2
Description:diaphanous related formin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29065  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X96,684,481 - 96,684,541EPDNEW
RGD ID:13627580
Promoter ID:EPDNEW_H29065
Type:initiation region
Name:DIAPH2_1
Description:diaphanous related formin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29064  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X96,684,842 - 96,684,902EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
DIAPH2, INTRONIC BREAKPOINT variation Premature ovarian failure 2a [RCV000012388] ChrX:Xq22 pathogenic
NM_006729.4(DIAPH2):c.2349+1887T>G single nucleotide variant Lung cancer [RCV000102980] ChrX:97101682 [GRCh38]
ChrX:96356681 [GRCh37]
ChrX:Xq21.33
uncertain significance
NM_006729.4(DIAPH2):c.2720-42967A>C single nucleotide variant Lung cancer [RCV000102981] ChrX:97204748 [GRCh38]
ChrX:96459747 [GRCh37]
ChrX:Xq21.33
uncertain significance
NM_006729.4(DIAPH2):c.2720-30955G>A single nucleotide variant Lung cancer [RCV000102982] ChrX:97216760 [GRCh38]
ChrX:96471759 [GRCh37]
ChrX:Xq21.33
uncertain significance
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)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: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 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 Xq21.33(chrX:97300288-98038562)x0 copy number loss See cases [RCV000051189] ChrX:97300288..98038562 [GRCh38]
ChrX:96555287..97293560 [GRCh37]
ChrX:96441943..97180216 [NCBI36]
ChrX:Xq21.33
uncertain significance
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 Xq21.1-23(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 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 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 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 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 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 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
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
GRCh38/hg38 Xq21.33(chrX:96635070-96965204)x2 copy number gain See cases [RCV000054228] ChrX:96635070..96965204 [GRCh38]
ChrX:95890069..96220203 [GRCh37]
ChrX:95776725..96106859 [NCBI36]
ChrX:Xq21.33
uncertain significance
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:10701-156003242)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
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)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: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: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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
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 Xq21.33(chrX:97519577-97568353)x3 copy number gain See cases [RCV000136434] ChrX:97519577..97568353 [GRCh38]
ChrX:96774576..96823352 [GRCh37]
ChrX:96661232..96710008 [NCBI36]
ChrX:Xq21.33
benign
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
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: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 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 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 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 Xq21.33(chrX:96032620-96710658)x2 copy number gain See cases [RCV000136655] ChrX:96032620..96710658 [GRCh38]
ChrX:95287619..95965657 [GRCh37]
ChrX:95174275..95852313 [NCBI36]
ChrX:Xq21.33
uncertain significance
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 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 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 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.33(chrX:95975241-96745547)x3 copy number gain See cases [RCV000137842] ChrX:95975241..96745547 [GRCh38]
ChrX:95230240..96000546 [GRCh37]
ChrX:95116896..95887202 [NCBI36]
ChrX:Xq21.33
uncertain significance
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 Xq21.33(chrX:96493947-96895992)x2 copy number gain See cases [RCV000138796] ChrX:96493947..96895992 [GRCh38]
ChrX:95748946..96150991 [GRCh37]
ChrX:95635602..96037647 [NCBI36]
ChrX:Xq21.33
likely benign
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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
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 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 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
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 Xq21.33(chrX:97374905-97628895)x3 copy number gain See cases [RCV000140516] ChrX:97374905..97628895 [GRCh38]
ChrX:96629904..96883894 [GRCh37]
ChrX:96516560..96770550 [NCBI36]
ChrX:Xq21.33
likely benign
GRCh38/hg38 Xq21.33(chrX:97519547-97568323)x0 copy number loss See cases [RCV000140553] ChrX:97519547..97568323 [GRCh38]
ChrX:96774546..96823322 [GRCh37]
ChrX:96661202..96709978 [NCBI36]
ChrX:Xq21.33
benign
GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3
pathogenic
GRCh38/hg38 Xq21.33(chrX:96635070-96950685)x3 copy number gain See cases [RCV000140508] ChrX:96635070..96950685 [GRCh38]
ChrX:95890069..96205684 [GRCh37]
ChrX:95776725..96092340 [NCBI36]
ChrX:Xq21.33
likely benign
GRCh38/hg38 Xq21.31-22.1(chrX:91225162-101026774)x1 copy number loss See cases [RCV000139915] ChrX:91225162..101026774 [GRCh38]
ChrX:90480161..100281763 [GRCh37]
ChrX:90366817..100168419 [NCBI36]
ChrX:Xq21.31-22.1
pathogenic
GRCh38/hg38 Xq21.31-22.1(chrX:87807750-100286152)x3 copy number gain See cases [RCV000141398] ChrX:87807750..100286152 [GRCh38]
ChrX:87062750..99541150 [GRCh37]
ChrX:86949406..99427806 [NCBI36]
ChrX:Xq21.31-22.1
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 Xq21.33(chrX:97459106-97556250)x1 copy number loss See cases [RCV000141293] ChrX:97459106..97556250 [GRCh38]
ChrX:96714105..96811249 [GRCh37]
ChrX:96600761..96697905 [NCBI36]
ChrX:Xq21.33
uncertain significance
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 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
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 Xq21.2-28(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 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)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 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 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: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 Xq21.33(chrX:97315114-97999718)x2 copy number gain See cases [RCV000143593] ChrX:97315114..97999718 [GRCh38]
ChrX:96570113..97254716 [GRCh37]
ChrX:96456769..97141372 [NCBI36]
ChrX:Xq21.33
uncertain significance
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
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
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 Xq21.31-21.33(chrX:91038450-96024832)x0 copy number loss See cases [RCV000240372] ChrX:91038450..96024832 [GRCh37]
ChrX:Xq21.31-21.33
uncertain significance
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
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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [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 Xq21.32-22.1(chrX:92879337-100099708)x1 copy number loss See cases [RCV000446413] ChrX:92879337..100099708 [GRCh37]
ChrX:Xq21.32-22.1
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 Xq21.33(chrX:96612667-97030674)x3 copy number gain See cases [RCV000446064] ChrX:96612667..97030674 [GRCh37]
ChrX:Xq21.33
uncertain significance
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 Xq21.33(chrX:96606285-97417849)x3 copy number gain See cases [RCV000448279] ChrX:96606285..97417849 [GRCh37]
ChrX:Xq21.33
likely benign
GRCh37/hg19 Xq21.33(chrX:96551654-97203666)x2 copy number gain See cases [RCV000448961] ChrX:96551654..97203666 [GRCh37]
ChrX:Xq21.33
likely benign
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 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
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 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
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 Xq21.33(chrX:96608078-97520248)x3 copy number gain See cases [RCV000511067] ChrX:96608078..97520248 [GRCh37]
ChrX:Xq21.33
likely benign
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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq21.33(chrX:95895329-96875894)x3 copy number gain See cases [RCV000512336] ChrX:95895329..96875894 [GRCh37]
ChrX:Xq21.33
uncertain significance
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 Xq21.31-21.33(chrX:86794810-96275443)x1 copy number loss not provided [RCV000684355] ChrX:86794810..96275443 [GRCh37]
ChrX:Xq21.31-21.33
pathogenic
GRCh37/hg19 Xq21.31-21.33(chrX:91023672-97733935)x1 copy number loss not provided [RCV000684356] ChrX:91023672..97733935 [GRCh37]
ChrX:Xq21.31-21.33
uncertain significance
GRCh37/hg19 Xq21.33-22.1(chrX:93648810-98447684)x1 copy number loss not provided [RCV000684360] ChrX:93648810..98447684 [GRCh37]
ChrX:Xq21.33-22.1
uncertain significance
GRCh37/hg19 Xq21.33(chrX:96705988-96932550)x2 copy number gain not provided [RCV000684361] ChrX:96705988..96932550 [GRCh37]
ChrX:Xq21.33
likely benign
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq21.33(chrX:96763921-96991879)x0 copy number loss not provided [RCV000684362] ChrX:96763921..96991879 [GRCh37]
ChrX:Xq21.33
uncertain significance
GRCh37/hg19 Xq21.33(chrX:95790819-96196880)x0 copy number loss not provided [RCV000753669] ChrX:95790819..96196880 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96394170-96412556)x3 copy number gain not provided [RCV000753670] ChrX:96394170..96412556 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96561601-96608595)x0 copy number loss not provided [RCV000753671] ChrX:96561601..96608595 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96563058-96611598)x0 copy number loss not provided [RCV000753672] ChrX:96563058..96611598 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96577595-96608595)x0 copy number loss not provided [RCV000753673] ChrX:96577595..96608595 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96577595-96657462)x0 copy number loss not provided [RCV000753674] ChrX:96577595..96657462 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96606995-96608595)x0 copy number loss not provided [RCV000753675] ChrX:96606995..96608595 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96606995-96611598)x0 copy number loss not provided [RCV000753676] ChrX:96606995..96611598 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96606995-96686283)x0 copy number loss not provided [RCV000753677] ChrX:96606995..96686283 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96647327-97030662)x2 copy number gain not provided [RCV000753678] ChrX:96647327..97030662 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96714222-96941789)x3 copy number gain not provided [RCV000753679] ChrX:96714222..96941789 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96770761-96833031)x1 copy number loss not provided [RCV000753680] ChrX:96770761..96833031 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96770761-96843813)x3 copy number gain not provided [RCV000753681] ChrX:96770761..96843813 [GRCh37]
ChrX:Xq21.33
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 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_006729.4(DIAPH2):c.3242-79706_3242-26582dup duplication Primary amenorrhea [RCV000754481] ChrX:97519547..97572671 [GRCh38]
ChrX:96774546..96827670 [GRCh37]
ChrX:Xq21.33
likely 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
GRCh37/hg19 Xq21.33(chrX:96771597-96832861)x1 copy number loss not provided [RCV001007326] ChrX:96771597..96832861 [GRCh37]
ChrX:Xq21.33
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_006729.5(DIAPH2):c.561G>A (p.Arg187=) single nucleotide variant not provided [RCV000921500] ChrX:96881692 [GRCh38]
ChrX:96136691 [GRCh37]
ChrX:Xq21.33
likely benign
NM_006729.5(DIAPH2):c.247G>A (p.Ala83Thr) single nucleotide variant Premature ovarian failure 2a [RCV001262467]|not provided [RCV000973169] ChrX:96738667 [GRCh38]
ChrX:95993666 [GRCh37]
ChrX:Xq21.33
benign|likely benign
NM_006729.5(DIAPH2):c.1332A>G (p.Gln444=) single nucleotide variant not provided [RCV000905471] ChrX:96942024 [GRCh38]
ChrX:96197023 [GRCh37]
ChrX:Xq21.33
likely benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_006729.5(DIAPH2):c.249G>A (p.Ala83=) single nucleotide variant not provided [RCV000900043] ChrX:96738669 [GRCh38]
ChrX:95993668 [GRCh37]
ChrX:Xq21.33
likely benign
NM_006729.5(DIAPH2):c.2262T>C (p.His754=) single nucleotide variant not provided [RCV000887308] ChrX:97099708 [GRCh38]
ChrX:96354707 [GRCh37]
ChrX:Xq21.33
benign
NM_006729.5(DIAPH2):c.1908G>A (p.Val636=) single nucleotide variant not provided [RCV000896495] ChrX:96958121 [GRCh38]
ChrX:96213120 [GRCh37]
ChrX:Xq21.33
likely benign
GRCh37/hg19 Xq21.32-22.1(chrX:92939446-99556731)x1 copy number loss not provided [RCV000846976] ChrX:92939446..99556731 [GRCh37]
ChrX:Xq21.32-22.1
pathogenic
GRCh37/hg19 Xq21.33(chrX:96305911-96349336)x1 copy number loss not provided [RCV000849712] ChrX:96305911..96349336 [GRCh37]
ChrX:Xq21.33
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
NM_006729.5(DIAPH2):c.1908G>C (p.Val636=) single nucleotide variant not provided [RCV000962900] ChrX:96958121 [GRCh38]
ChrX:96213120 [GRCh37]
ChrX:Xq21.33
benign
GRCh37/hg19 Xq21.33(chrX:96547513-96875895)x2 copy number gain not provided [RCV000849997] ChrX:96547513..96875895 [GRCh37]
ChrX:Xq21.33
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq21.33(chrX:95699276-96113315)x2 copy number gain not provided [RCV000846127] ChrX:95699276..96113315 [GRCh37]
ChrX:Xq21.33
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33(chrX:95690434-96217981)x3 copy number gain not provided [RCV000845829] ChrX:95690434..96217981 [GRCh37]
ChrX:Xq21.33
uncertain significance
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
NM_006729.5(DIAPH2):c.1512C>T (p.Phe504=) single nucleotide variant not provided [RCV000887644] ChrX:96948937 [GRCh38]
ChrX:96203936 [GRCh37]
ChrX:Xq21.33
benign
NM_006729.5(DIAPH2):c.1425C>T (p.Ile475=) single nucleotide variant not provided [RCV000934248] ChrX:96942117 [GRCh38]
ChrX:96197116 [GRCh37]
ChrX:Xq21.33
likely benign
GRCh37/hg19 Xq21.33(chrX:95321681-96771612)x3 copy number gain not provided [RCV001007324] ChrX:95321681..96771612 [GRCh37]
ChrX:Xq21.33
uncertain significance
GRCh37/hg19 Xq21.33(chrX:96266915-96556797)x3 copy number gain not provided [RCV001007325] ChrX:96266915..96556797 [GRCh37]
ChrX:Xq21.33
uncertain significance
GRCh37/hg19 Xq21.33(chrX:95403686-96064475)x3 copy number gain not provided [RCV001259011] ChrX:95403686..96064475 [GRCh37]
ChrX:Xq21.33
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
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
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 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2877 AgrOrtholog
COSMIC DIAPH2 COSMIC
Ensembl Genes ENSG00000147202 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000321348 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000348082 UniProtKB/TrEMBL
  ENSP00000362140 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362145 UniProtKB/TrEMBL
  ENSP00000362152 UniProtKB/TrEMBL
Ensembl Transcript ENST00000324765 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000355827 UniProtKB/TrEMBL
  ENST00000373049 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373054 UniProtKB/TrEMBL
  ENST00000373061 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.2220 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147202 GTEx
HGNC ID HGNC:2877 ENTREZGENE
Human Proteome Map DIAPH2 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DIAPH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Drf_DAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FH2_Formin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FH2_Formin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FH3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GBD/FH3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GTPase-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1730 UniProtKB/Swiss-Prot
NCBI Gene 1730 ENTREZGENE
OMIM 300108 OMIM
  300511 OMIM
PANTHER PTHR45691:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Drf_DAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Drf_FH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Drf_GBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27334 PharmGKB
PROSITE DAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GBD_FH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Drf_FH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Drf_GBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1S5UYZ9_HUMAN UniProtKB/TrEMBL
  A6NML8_HUMAN UniProtKB/TrEMBL
  B7ZLJ0_HUMAN UniProtKB/TrEMBL
  C9J6U3_HUMAN UniProtKB/TrEMBL
  DIAP2_HUMAN UniProtKB/Swiss-Prot
  K4DI95_HUMAN UniProtKB/TrEMBL
  O60879 ENTREZGENE
  Q17R91_HUMAN UniProtKB/TrEMBL
UniProt Secondary A6NG19 UniProtKB/Swiss-Prot
  O60878 UniProtKB/Swiss-Prot
  Q8WX06 UniProtKB/Swiss-Prot
  Q8WX48 UniProtKB/Swiss-Prot
  Q9UJL2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DIAPH2  diaphanous related formin 2    diaphanous-related formin 2  Symbol and/or name change 5135510 APPROVED
2013-06-04 DIAPH2  diaphanous-related formin 2    diaphanous homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED
2011-09-01 DIAPH2  diaphanous homolog 2 (Drosophila)  DIAPH2  diaphanous homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED