BCAP31 (B cell receptor associated protein 31) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: BCAP31 (B cell receptor associated protein 31) Homo sapiens
Analyze
Symbol: BCAP31
Name: B cell receptor associated protein 31
RGD ID: 1349319
HGNC Page HGNC
Description: Predicted to have MHC class I protein binding activity. Involved in several processes, including calcium-mediated signaling using intracellular calcium source; cellular calcium ion homeostasis; and positive regulation of proteolysis. Localizes to several cellular components, including lipid droplet; mitochondria-associated endoplasmic reticulum membrane; and perinuclear endoplasmic reticulum. Implicated in deafness, dystonia, and cerebral hypomyelination and sensorineural hearing loss.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 6C6-AG; 6C6-AG tumor-associated antigen; B-cell receptor associated protein 31; B-cell receptor-associated protein 31; BAP31; BCR-associated protein Bap31; CDM; DDCH; DXS1357E; p28 Bap31
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: BCAP31P1   BCAP31P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,700,492 - 153,724,565 (-)EnsemblGRCh38hg38GRCh38
GRCh38X153,700,492 - 153,724,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X152,965,947 - 152,989,842 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,619,146 - 152,643,081 (-)NCBINCBI36hg18NCBI36
Build 34X152,486,798 - 152,510,734NCBI
CeleraX153,199,631 - 153,223,882 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,623,032 - 141,647,457 (-)NCBIHuRef
CHM1_1X152,840,359 - 152,864,610 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7806238   PMID:8125298   PMID:8612576   PMID:8706661   PMID:9334338   PMID:9396746   PMID:9804161   PMID:10958671   PMID:11042173   PMID:11076863   PMID:11163199   PMID:11561007  
PMID:11851433   PMID:11917123   PMID:11992258   PMID:12477932   PMID:12529377   PMID:12594175   PMID:12605685   PMID:12668660   PMID:12886015   PMID:14502241   PMID:14702039   PMID:14741744  
PMID:15024066   PMID:15161933   PMID:15254227   PMID:15294914   PMID:15489334   PMID:15489336   PMID:15772651   PMID:15933766   PMID:16344560   PMID:16381901   PMID:16858427   PMID:17003517  
PMID:17056546   PMID:17255364   PMID:17401199   PMID:17500595   PMID:17558393   PMID:18029348   PMID:18287538   PMID:18555783   PMID:18684816   PMID:19165151   PMID:19221507   PMID:19342655  
PMID:19401338   PMID:19519245   PMID:19946888   PMID:20360068   PMID:21081644   PMID:21103663   PMID:21151997   PMID:21183955   PMID:21285974   PMID:21527846   PMID:21873635   PMID:21947079  
PMID:21988832   PMID:22056873   PMID:22182703   PMID:22190034   PMID:22304920   PMID:22658674   PMID:23246001   PMID:23284715   PMID:24332808   PMID:24395279   PMID:24454821   PMID:24597975  
PMID:24898727   PMID:25044748   PMID:25416956   PMID:25437307   PMID:25854864   PMID:25921289   PMID:25959826   PMID:25980696   PMID:26102500   PMID:26212606   PMID:26344197   PMID:26496610  
PMID:26638075   PMID:26760575   PMID:26972000   PMID:27342126   PMID:27684187   PMID:27770627   PMID:28298427   PMID:28332767   PMID:28514442   PMID:28685749   PMID:28931009   PMID:29145450  
PMID:29180619   PMID:29395067   PMID:29507755   PMID:29568061   PMID:29653744   PMID:29911972   PMID:30021884   PMID:30022068   PMID:30194290   PMID:30338855   PMID:30455355   PMID:30503502  
PMID:30575818   PMID:30639242   PMID:30948266   PMID:31024071   PMID:31056421   PMID:31073040   PMID:31177093   PMID:31206022   PMID:31300519   PMID:31436131   PMID:31478661   PMID:31536960  
PMID:31588230   PMID:31671609   PMID:31980649   PMID:31995728   PMID:32129710   PMID:32132574   PMID:32296183   PMID:32788342   PMID:32814053   PMID:32877691  


Genomics

Comparative Map Data
BCAP31
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,700,492 - 153,724,565 (-)EnsemblGRCh38hg38GRCh38
GRCh38X153,700,492 - 153,724,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X152,965,947 - 152,989,842 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,619,146 - 152,643,081 (-)NCBINCBI36hg18NCBI36
Build 34X152,486,798 - 152,510,734NCBI
CeleraX153,199,631 - 153,223,882 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,623,032 - 141,647,457 (-)NCBIHuRef
CHM1_1X152,840,359 - 152,864,610 (-)NCBICHM1_1
Bcap31
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,729,784 - 72,761,421 (-)NCBIGRCm39mm39
GRCm39 EnsemblX72,729,784 - 72,759,781 (-)Ensembl
GRCm38X73,686,178 - 73,717,815 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,686,178 - 73,716,175 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X70,931,522 - 70,961,514 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X69,938,903 - 69,968,895 (-)NCBImm8
CeleraX64,939,998 - 64,969,873 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
Bcap31
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X151,397,567 - 151,429,666 (-)NCBI
Rnor_6.0 EnsemblX157,095,937 - 157,126,393 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X157,094,365 - 157,126,397 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,843,762 - 152,875,715 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,583,683 - 159,614,143 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X159,658,111 - 159,688,572 (-)NCBI
Celera1136,461,516 - 136,491,976 (+)NCBICelera
Cytogenetic MapXq37NCBI
Bcap31
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580428,644 - 459,168 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955580429,223 - 459,168 (-)NCBIChiLan1.0ChiLan1.0
BCAP31
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v0X143,265,920 - 143,274,956 (-)NCBIMhudiblu_PPA_v0panPan3
BCAP31
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,515,417 - 121,550,373 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,507,084 - 121,545,263 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX106,844,790 - 106,879,849 (-)NCBI
ROS_Cfam_1.0X124,656,935 - 124,692,012 (-)NCBI
UMICH_Zoey_3.1X120,426,370 - 120,461,432 (-)NCBI
UNSW_CanFamBas_1.0X122,941,327 - 122,976,452 (-)NCBI
UU_Cfam_GSD_1.0X122,703,489 - 122,738,554 (-)NCBI
Bcap31
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X118,844,918 - 118,877,048 (-)NCBI
SpeTri2.0NW_004936809582,689 - 614,800 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCAP31
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,457,001 - 124,484,743 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,456,999 - 124,484,923 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,021,546 - 142,049,432 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BCAP31
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,128,739 - 128,152,617 (-)NCBI
ChlSab1.1 EnsemblX128,128,271 - 128,151,823 (-)Ensembl
Bcap31
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946398,901 - 420,767 (-)NCBI

Position Markers
D5S651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,986,298 - 152,986,664UniSTSGRCh37
GRCh37533,382,212 - 33,382,317UniSTSGRCh37
GRCh37533,382,121 - 33,382,301UniSTSGRCh37
Build 36533,417,969 - 33,418,074RGDNCBI36
Celera533,263,165 - 33,263,345UniSTS
CeleraX153,219,979 - 153,220,345UniSTS
Celera533,263,256 - 33,263,361RGD
HuRef533,351,007 - 33,351,108UniSTS
HuRefX141,643,555 - 141,643,921UniSTS
HuRef533,350,916 - 33,351,092UniSTS
Marshfield Genetic Map547.09UniSTS
Marshfield Genetic Map547.09RGD
Genethon Genetic Map546.6UniSTS
TNG Radiation Hybrid Map515647.0UniSTS
TNG Radiation Hybrid Map515605.0UniSTS
Stanford-G3 RH Map51181.0UniSTS
GeneMap99-GB4 RH Map5119.98UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5175.4UniSTS
GeneMap99-G3 RH Map51227.0UniSTS
RH77716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371632,884,580 - 32,884,809UniSTSGRCh37
Build 361632,792,081 - 32,792,310RGDNCBI36
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq28UniSTS
HuRefX141,623,116 - 141,623,345UniSTS
UniSTS:99200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,990,572 - 152,990,659UniSTSGRCh37
Build 36X152,643,766 - 152,643,853RGDNCBI36
CeleraX153,224,253 - 153,224,340RGD
HuRefX141,647,828 - 141,647,915UniSTS
DXS7452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,965,967 - 152,966,122UniSTSGRCh37
Build 36X152,619,161 - 152,619,316RGDNCBI36
CeleraX153,199,651 - 153,199,806RGD
Cytogenetic MapXq28UniSTS
HuRefX141,623,052 - 141,623,207UniSTS
GDB:511618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,991,221 - 152,991,340UniSTSGRCh37
Build 36X152,644,415 - 152,644,534RGDNCBI36
CeleraX153,224,902 - 153,225,021RGD
Cytogenetic MapXq28UniSTS
HuRefX141,648,477 - 141,648,596UniSTS
GDB:523970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,990,639 - 152,991,175UniSTSGRCh37
Build 36X152,643,833 - 152,644,369RGDNCBI36
CeleraX153,224,320 - 153,224,856RGD
Cytogenetic MapXq28UniSTS
HuRefX141,647,895 - 141,648,431UniSTS
GDB:524010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,990,639 - 152,991,156UniSTSGRCh37
Build 36X152,643,833 - 152,644,350RGDNCBI36
CeleraX153,224,320 - 153,224,837RGD
Cytogenetic MapXq28UniSTS
HuRefX141,647,895 - 141,648,412UniSTS
DXS7418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,982,386 - 152,982,504UniSTSGRCh37
Build 36X152,635,580 - 152,635,698RGDNCBI36
CeleraX153,216,067 - 153,216,185RGD
Cytogenetic MapXq28UniSTS
HuRefX141,639,612 - 141,639,730UniSTS
RH70615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,980,735 - 152,980,864UniSTSGRCh37
Build 36X152,633,929 - 152,634,058RGDNCBI36
CeleraX153,214,416 - 153,214,545RGD
Cytogenetic MapXq28UniSTS
HuRefX141,637,960 - 141,638,089UniSTS
GeneMap99-GB4 RH MapX350.52UniSTS
RH71460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,980,663 - 152,980,847UniSTSGRCh37
Build 36X152,633,857 - 152,634,041RGDNCBI36
CeleraX153,214,344 - 153,214,528RGD
Cytogenetic MapXq28UniSTS
HuRefX141,637,888 - 141,638,072UniSTS
GeneMap99-GB4 RH MapX352.26UniSTS
RH79936  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3543
Count of miRNA genes:878
Interacting mature miRNAs:1030
Transcripts:ENST00000345046, ENST00000416815, ENST00000423827, ENST00000429550, ENST00000430088, ENST00000441714, ENST00000442093, ENST00000458587, ENST00000468947
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, 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 3 1 1 40 2
Medium 2435 2976 1726 624 1948 465 4357 2185 3730 419 1420 1610 175 1 1204 2788 6 2
Low 1 15 2 11 4 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001139441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001139457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI123868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU132745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE729820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG779815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX474419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX164660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA134013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA819112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U36341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X81109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z31696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000345046   ⟹   ENSP00000343458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,700,492 - 153,724,387 (-)Ensembl
RefSeq Acc Id: ENST00000416815   ⟹   ENSP00000394270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,702,990 - 153,724,113 (-)Ensembl
RefSeq Acc Id: ENST00000423827   ⟹   ENSP00000389740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,703,001 - 153,724,044 (-)Ensembl
RefSeq Acc Id: ENST00000429550   ⟹   ENSP00000409888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,702,975 - 153,724,565 (-)Ensembl
RefSeq Acc Id: ENST00000430088   ⟹   ENSP00000402342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,704,021 - 153,723,399 (-)Ensembl
RefSeq Acc Id: ENST00000442093   ⟹   ENSP00000400345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,702,970 - 153,724,383 (-)Ensembl
RefSeq Acc Id: ENST00000458587   ⟹   ENSP00000392330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,700,492 - 153,724,066 (-)Ensembl
RefSeq Acc Id: ENST00000468947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,715,567 - 153,721,157 (-)Ensembl
RefSeq Acc Id: ENST00000645006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,700,531 - 153,702,454 (-)Ensembl
RefSeq Acc Id: ENST00000645377   ⟹   ENSP00000494936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,700,497 - 153,724,388 (-)Ensembl
RefSeq Acc Id: ENST00000645802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,715,417 - 153,724,396 (-)Ensembl
RefSeq Acc Id: ENST00000646514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,700,503 - 153,705,456 (-)Ensembl
RefSeq Acc Id: ENST00000647529   ⟹   ENSP00000494052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,700,496 - 153,724,435 (-)Ensembl
RefSeq Acc Id: ENST00000672675   ⟹   ENSP00000499882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,700,500 - 153,724,388 (-)Ensembl
RefSeq Acc Id: NM_001139441   ⟹   NP_001132913
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,700,492 - 153,724,127 (-)NCBI
GRCh37X152,965,947 - 152,990,201 (-)ENTREZGENE
HuRefX141,623,032 - 141,647,457 (-)ENTREZGENE
CHM1_1X152,840,359 - 152,863,991 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001139457   ⟹   NP_001132929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,700,492 - 153,724,101 (-)NCBI
GRCh37X152,965,947 - 152,990,201 (-)ENTREZGENE
HuRefX141,623,032 - 141,647,457 (-)ENTREZGENE
CHM1_1X152,840,359 - 152,863,965 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256447   ⟹   NP_001243376
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,700,492 - 153,724,387 (-)NCBI
GRCh37X152,965,947 - 152,990,201 (-)NCBI
HuRefX141,623,032 - 141,647,457 (-)NCBI
CHM1_1X152,840,359 - 152,864,610 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005745   ⟹   NP_005736
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,700,492 - 153,724,387 (-)NCBI
GRCh37X152,965,947 - 152,990,201 (-)ENTREZGENE
Build 36X152,619,146 - 152,643,081 (-)NCBI Archive
HuRefX141,623,032 - 141,647,457 (-)ENTREZGENE
CHM1_1X152,840,359 - 152,864,247 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958758
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,700,497 - 153,724,094 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958759
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,700,497 - 153,724,746 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958760
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,700,497 - 153,724,378 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958761
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,700,497 - 153,724,127 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005736   ⟸   NM_005745
- Peptide Label: isoform b
- UniProtKB: P51572 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001132913   ⟸   NM_001139441
- Peptide Label: isoform b
- UniProtKB: P51572 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001132929   ⟸   NM_001139457
- Peptide Label: isoform a
- UniProtKB: P51572 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243376   ⟸   NM_001256447
- Peptide Label: isoform b
- UniProtKB: P51572 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000389740   ⟸   ENST00000423827
RefSeq Acc Id: ENSP00000343458   ⟸   ENST00000345046
RefSeq Acc Id: ENSP00000409888   ⟸   ENST00000429550
RefSeq Acc Id: ENSP00000394270   ⟸   ENST00000416815
RefSeq Acc Id: ENSP00000400345   ⟸   ENST00000442093
RefSeq Acc Id: ENSP00000392330   ⟸   ENST00000458587
RefSeq Acc Id: ENSP00000402342   ⟸   ENST00000430088
RefSeq Acc Id: ENSP00000494936   ⟸   ENST00000645377
RefSeq Acc Id: ENSP00000499882   ⟸   ENST00000672675
RefSeq Acc Id: ENSP00000494052   ⟸   ENST00000647529
Protein Domains
Bap31   Bap31_Bap29_C

Promoters
RGD ID:6808690
Promoter ID:HG_KWN:68552
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370129,   NM_000033,   NM_001139441,   NM_001139457,   NM_005745,   NR_024450,   OTTHUMT00000061074,   OTTHUMT00000061075,   OTTHUMT00000061076,   OTTHUMT00000061077,   OTTHUMT00000061079
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,641,471 - 152,645,157 (+)MPROMDB
RGD ID:6851182
Promoter ID:EP73388
Type:initiation region
Name:HS_BCAP31
Description:B-cell receptor-associated protein 31 (BAP31).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,643,029 - 152,643,089EPD
RGD ID:13628508
Promoter ID:EPDNEW_H29493
Type:initiation region
Name:BCAP31_1
Description:B-cell receptor-associated protein 31
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29494  EPDNEW_H29498  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,724,066 - 153,724,126EPDNEW
RGD ID:13628512
Promoter ID:EPDNEW_H29494
Type:initiation region
Name:BCAP31_2
Description:B-cell receptor-associated protein 31
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29493  EPDNEW_H29498  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,724,385 - 153,724,445EPDNEW

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_001256447.2(BCAP31):c.363_364TC[1] (p.Leu122fs) microsatellite Chromosome Xq28 deletion syndrome [RCV000578429]|Inborn genetic diseases [RCV001266266] ChrX:153704070..153704071 [GRCh38]
ChrX:152969525..152969526 [GRCh37]
ChrX:Xq28
pathogenic
NM_001256447.2(BCAP31):c.194-2A>G single nucleotide variant Chromosome Xq28 deletion syndrome [RCV000059314] ChrX:153715691 [GRCh38]
ChrX:152981146 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.11:g.153696346_153701690del deletion Chromosome Xq28 deletion syndrome [RCV000059315] ChrX:153696346..153701690 [GRCh38]
ChrX:Xq28
pathogenic
NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter) single nucleotide variant Chromosome Xq28 deletion syndrome [RCV000059316] ChrX:153720968 [GRCh38]
ChrX:152986423 [GRCh37]
ChrX:Xq28
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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
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:10679-156022206)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)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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-153817949)x0 copy number loss See cases [RCV000051751] ChrX:153667032..153817949 [GRCh38]
ChrX:152585681..152736598 [NCBI36]
ChrX:Xq28
pathogenic
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 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
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 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 Xq28(chrX:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28
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-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 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 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
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: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: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)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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
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 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
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 Xq21.33-28(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 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq28(chrX:153688340-153704118)x2 copy number gain See cases [RCV000135947] ChrX:153688340..153704118 [GRCh38]
ChrX:152606989..152622767 [NCBI36]
ChrX:Xq28
pathogenic|uncertain significance
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 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
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 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
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 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
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 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
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 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
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 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
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 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 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 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 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
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 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 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
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 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
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 Xq28(chrX:153392250-153934599)x3 copy number gain See cases [RCV000142157] ChrX:153392250..153934599 [GRCh38]
ChrX:152657708..153200052 [GRCh37]
ChrX:152310902..152853246 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 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)x3 copy number gain See cases [RCV000148141] 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)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
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:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met) single nucleotide variant not provided [RCV000224145] ChrX:153704053 [GRCh38]
ChrX:152969508 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity
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 Xq28(chrX:152912867-153236360)x2 copy number gain See cases [RCV000239969] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152925866-153032459)x2 copy number gain See cases [RCV000240069] ChrX:152925866..153032459 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
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 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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
NM_001256447.2(BCAP31):c.307_308CT[1] (p.Tyr104fs) microsatellite not provided [RCV000270990] ChrX:153715573..153715574 [GRCh38]
ChrX:152981028..152981029 [GRCh37]
ChrX:Xq28
pathogenic
NM_001256447.2(BCAP31):c.119T>C (p.Leu40Pro) single nucleotide variant Global developmental delay [RCV000415173] ChrX:153720946 [GRCh38]
ChrX:152986401 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001256447.2(BCAP31):c.-44-270C>A single nucleotide variant Chromosome Xq28 deletion syndrome [RCV000415452] ChrX:153723558 [GRCh38]
ChrX:152989013 [GRCh37]
ChrX:Xq28
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 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: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 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
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 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
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:168546-155196888)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 Xq28(chrX:152969516-153044721)x3 copy number gain See cases [RCV000447135] ChrX:152969516..153044721 [GRCh37]
ChrX:Xq28
likely benign
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 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
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
NM_001256447.2(BCAP31):c.341+2T>G single nucleotide variant Chromosome Xq28 deletion syndrome [RCV000509475]|not provided [RCV000485079] ChrX:153715540 [GRCh38]
ChrX:152980995 [GRCh37]
ChrX:Xq28
pathogenic|not provided
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
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 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
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:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
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 Xq28(chrX:152559822-153104847)x3 copy number gain See cases [RCV000511269] ChrX:152559822..153104847 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
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 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_001256447.2(BCAP31):c.739T>C (p.Ter247Gln) single nucleotide variant Inborn genetic diseases [RCV000622378] ChrX:153700939 [GRCh38]
ChrX:152966394 [GRCh37]
ChrX:Xq28
likely pathogenic|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
Single allele duplication not provided [RCV000677999] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
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 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152398094-153176959)x2 copy number gain not provided [RCV000684736] ChrX:152398094..153176959 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28
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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152932626-153008731)x2 copy number gain not provided [RCV000753923] ChrX:152932626..153008731 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:152959115-152982350)x2 copy number gain not provided [RCV000753924] ChrX:152959115..152982350 [GRCh37]
ChrX:Xq28
benign
NM_001256447.2(BCAP31):c.517G>T (p.Ala173Ser) single nucleotide variant not specified [RCV000736067] ChrX:153703019 [GRCh38]
ChrX:152968474 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
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: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:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001256447.2(BCAP31):c.192C>T (p.Ile64=) single nucleotide variant not provided [RCV000918239] ChrX:153720873 [GRCh38]
ChrX:152986328 [GRCh37]
ChrX:Xq28
benign
NM_001256447.2(BCAP31):c.91A>T (p.Arg31Ter) single nucleotide variant not provided [RCV000760960] ChrX:153723154 [GRCh38]
ChrX:152988609 [GRCh37]
ChrX:Xq28
pathogenic
NM_001256447.2(BCAP31):c.9G>T (p.Leu3=) single nucleotide variant not provided [RCV000927394] ChrX:153723236 [GRCh38]
ChrX:152988691 [GRCh37]
ChrX:Xq28
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
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152980470-153032459) copy number loss Adrenoleukodystrophy [RCV000767810] ChrX:152980470..153032459 [GRCh37]
ChrX:Xq28
pathogenic
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_001256447.2(BCAP31):c.601+9C>T single nucleotide variant not provided [RCV000876169] ChrX:153702926 [GRCh38]
ChrX:152968381 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152959340)_(153009209_?)del deletion Adrenoleukodystrophy [RCV000805899] ChrX:152959340..153009209 [GRCh37]
ChrX:Xq28
pathogenic
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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq28(chrX:152765599-152970126)x3 copy number gain not provided [RCV000848856] ChrX:152765599..152970126 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001256447.2(BCAP31):c.384G>A (p.Thr128=) single nucleotide variant not provided [RCV000871942] ChrX:153704052 [GRCh38]
ChrX:152969507 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:152398094-153086545)x2 copy number gain not provided [RCV000848454] ChrX:152398094..153086545 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
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
NM_001256447.2(BCAP31):c.729_732GAAG[1] (p.Glu245fs) microsatellite not provided [RCV000996041] ChrX:153700942..153700945 [GRCh38]
ChrX:152966397..152966400 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001256447.2(BCAP31):c.-27T>G single nucleotide variant not provided [RCV000996042] ChrX:153723271 [GRCh38]
ChrX:152988726 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001256447.2(BCAP31):c.144C>G (p.Gly48=) single nucleotide variant not provided [RCV000927428] ChrX:153720921 [GRCh38]
ChrX:152986376 [GRCh37]
ChrX:Xq28
likely benign
NM_001256447.2(BCAP31):c.579C>T (p.Asp193=) single nucleotide variant not provided [RCV000894870] ChrX:153702957 [GRCh38]
ChrX:152968412 [GRCh37]
ChrX:Xq28
likely benign
NM_001256447.2(BCAP31):c.115C>T (p.Arg39Trp) single nucleotide variant not provided [RCV000914561] ChrX:153720950 [GRCh38]
ChrX:152986405 [GRCh37]
ChrX:Xq28
likely benign
NM_001256447.2(BCAP31):c.415C>T (p.Gln139Ter) single nucleotide variant Chromosome Xq28 deletion syndrome [RCV000990971] ChrX:153704021 [GRCh38]
ChrX:152969476 [GRCh37]
ChrX:Xq28
pathogenic
NM_001256447.2(BCAP31):c.713A>T (p.Asp238Val) single nucleotide variant Microcephaly [RCV001252804] ChrX:153700965 [GRCh38]
ChrX:152966420 [GRCh37]
ChrX:Xq28
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
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954010)_(153141311_?)dup duplication Creatine transporter deficiency [RCV001033780] ChrX:152954010..153141311 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001256447.2(BCAP31):c.317C>T (p.Ala106Val) single nucleotide variant Chromosome Xq28 deletion syndrome [RCV001253190] ChrX:153715566 [GRCh38]
ChrX:152981021 [GRCh37]
ChrX:Xq28
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:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153055639)x3 copy number gain not provided [RCV001260060] ChrX:152941302..153055639 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152649825-152988014) copy number gain Rett syndrome [RCV001291983] ChrX:152649825..152988014 [GRCh37]
ChrX:Xq28
pathogenic
NM_001256447.2(BCAP31):c.492C>G (p.Asp164Glu) single nucleotide variant Chromosome Xq28 deletion syndrome [RCV001330371] ChrX:153703044 [GRCh38]
ChrX:152968499 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16695 AgrOrtholog
COSMIC BCAP31 COSMIC
Ensembl Genes ENSG00000185825 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000343458 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389740 UniProtKB/TrEMBL
  ENSP00000392330 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394270 UniProtKB/TrEMBL
  ENSP00000400345 UniProtKB/TrEMBL
  ENSP00000402342 UniProtKB/TrEMBL
  ENSP00000409888 UniProtKB/TrEMBL
  ENSP00000494052 UniProtKB/Swiss-Prot
  ENSP00000494936 UniProtKB/TrEMBL
  ENSP00000499882 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000345046 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000416815 UniProtKB/TrEMBL
  ENST00000423827 UniProtKB/TrEMBL
  ENST00000429550 UniProtKB/TrEMBL
  ENST00000430088 UniProtKB/TrEMBL
  ENST00000442093 UniProtKB/TrEMBL
  ENST00000458587 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000645377 UniProtKB/TrEMBL
  ENST00000647529 UniProtKB/Swiss-Prot
  ENST00000672675 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000185825 GTEx
HGNC ID HGNC:16695 ENTREZGENE
Human Proteome Map BCAP31 Human Proteome Map
InterPro BAP29/BAP31 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BAP29/BAP31_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bap31/Bap29_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10134 UniProtKB/Swiss-Prot
NCBI Gene 10134 ENTREZGENE
OMIM 300398 OMIM
  300475 OMIM
PANTHER PTHR12701 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Bap31 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bap31_Bap29_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394569 PharmGKB
UniProt A0A2R8Y5M6_HUMAN UniProtKB/TrEMBL
  BAP31_HUMAN UniProtKB/Swiss-Prot
  C9J0M4_HUMAN UniProtKB/TrEMBL
  C9JM14_HUMAN UniProtKB/TrEMBL
  C9JMD7_HUMAN UniProtKB/TrEMBL
  C9JQ75_HUMAN UniProtKB/TrEMBL
  C9JSP1_HUMAN UniProtKB/TrEMBL
  P51572 ENTREZGENE
UniProt Secondary B3KQ79 UniProtKB/Swiss-Prot
  D3DWV5 UniProtKB/Swiss-Prot
  Q13836 UniProtKB/Swiss-Prot
  Q96CF0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-12-19 BCAP31  B cell receptor associated protein 31    B-cell receptor associated protein 31  Symbol and/or name change 5135510 APPROVED
2017-05-16 BCAP31  B-cell receptor associated protein 31    B-cell receptor-associated protein 31  Symbol and/or name change 5135510 APPROVED