BHLHB9 (basic helix-loop-helix family member b9) - Rat Genome Database

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Gene: BHLHB9 (basic helix-loop-helix family member b9) Homo sapiens
Analyze
Symbol: BHLHB9
Name: basic helix-loop-helix family member b9
RGD ID: 1347976
HGNC Page HGNC
Description: Predicted to have protein homodimerization activity. Predicted to be involved in learning or memory; negative regulation of neuron apoptotic process; and positive regulation of nervous system development. Localizes to cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: basic helix-loop-helix domain containing, class B, 9; GASP3; KIAA1701; p60-like protein; p60-transcription-regulator-protein; p60TRP; transcription regulator of 60 kDa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: BHLHB9P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX102,720,688 - 102,753,540 (+)EnsemblGRCh38hg38GRCh38
GRCh38X102,720,743 - 102,753,540 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X101,975,671 - 102,008,468 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X101,862,310 - 101,894,024 (+)NCBINCBI36hg18NCBI36
Build 34X101,781,798 - 101,813,513NCBI
CeleraX102,414,680 - 102,446,406 (+)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX91,641,229 - 91,672,865 (+)NCBIHuRef
CHM1_1X101,868,307 - 101,900,034 (+)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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:11214970   PMID:12477932   PMID:16221301   PMID:16344560   PMID:19056867   PMID:21832049   PMID:26854063   PMID:32296183  


Genomics

Comparative Map Data
BHLHB9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX102,720,688 - 102,753,540 (+)EnsemblGRCh38hg38GRCh38
GRCh38X102,720,743 - 102,753,540 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X101,975,671 - 102,008,468 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X101,862,310 - 101,894,024 (+)NCBINCBI36hg18NCBI36
Build 34X101,781,798 - 101,813,513NCBI
CeleraX102,414,680 - 102,446,406 (+)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX91,641,229 - 91,672,865 (+)NCBIHuRef
CHM1_1X101,868,307 - 101,900,034 (+)NCBICHM1_1
Bhlhb9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X134,742,388 - 134,791,830 (+)NCBIGRCm39mm39
GRCm39 EnsemblX134,698,343 - 134,791,830 (+)Ensembl
GRCm38X135,841,639 - 135,891,081 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX135,797,594 - 135,891,081 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X132,420,390 - 132,425,620 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X131,235,266 - 131,237,439 (+)NCBImm8
CeleraX119,202,603 - 119,207,835 (+)NCBICelera
Cytogenetic MapXF1NCBI
Bhlhb9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X98,820,289 - 98,854,949 (+)NCBI
Rnor_6.0 EnsemblX106,390,759 - 106,393,459 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X106,359,981 - 106,393,457 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X106,726,766 - 106,739,896 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X123,149,086 - 123,151,846 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X123,222,518 - 123,225,279 (+)NCBI
CeleraX100,291,299 - 100,293,998 (-)NCBICelera
Cytogenetic MapXq32NCBI
Bhlhb9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955548230,525 - 236,043 (+)NCBIChiLan1.0ChiLan1.0
BHLHB9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X102,324,471 - 102,358,183 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X91,944,691 - 91,978,289 (+)NCBIMhudiblu_PPA_v0panPan3
BHLHB9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X76,635,887 - 76,651,465 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX76,636,667 - 76,638,319 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X77,830,292 - 77,845,859 (+)NCBI
UMICH_Zoey_3.1X75,380,346 - 75,395,910 (+)NCBI
UNSW_CanFamBas_1.0X77,043,280 - 77,058,840 (+)NCBI
UU_Cfam_GSD_1.0X76,753,328 - 76,768,896 (+)NCBI
Bhlhb9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X62,370,715 - 62,375,944 (+)NCBI
SpeTri2.0NW_0049368131,099,164 - 1,137,974 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BHLHB9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X83,895,554 - 83,911,573 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X97,835,521 - 97,851,537 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BHLHB9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X90,695,125 - 90,735,910 (+)NCBI
Vero_WHO_p1.0NW_02366606515,532,543 - 15,573,372 (+)NCBI

Position Markers
RH78520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X101,972,198 - 101,972,355UniSTSGRCh37
Build 36X101,858,854 - 101,859,011RGDNCBI36
CeleraX102,411,236 - 102,411,393RGD
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXq23UniSTS
HuRefX91,637,785 - 91,637,942UniSTS
GeneMap99-GB4 RH MapX274.99UniSTS
DXS7007E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X102,007,110 - 102,007,267UniSTSGRCh37
Build 36X101,893,766 - 101,893,923RGDNCBI36
CeleraX102,446,147 - 102,446,304RGD
Cytogenetic MapXq23UniSTS
HuRefX91,672,606 - 91,672,763UniSTS
SHGC-143390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X101,950,525 - 101,950,833UniSTSGRCh37
Build 36X101,837,181 - 101,837,489RGDNCBI36
CeleraX102,389,563 - 102,389,871RGD
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXq23UniSTS
HuRefX91,615,975 - 91,616,283UniSTS
A008N06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X101,978,377 - 101,978,518UniSTSGRCh37
Build 36X101,865,033 - 101,865,174RGDNCBI36
CeleraX102,417,415 - 102,417,556RGD
Cytogenetic MapXq23UniSTS
HuRefX91,643,751 - 91,643,892UniSTS
GeneMap99-GB4 RH MapX277.23UniSTS
RH80031  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8q21.3UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1p36.12-p35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic MapXq21.2UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6371
Count of miRNA genes:1194
Interacting mature miRNAs:1491
Transcripts:ENST00000361229, ENST00000372735, ENST00000447531, ENST00000448867, ENST00000457056, ENST00000483294, ENST00000486988
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 6 15 40 1 4 1 179 10 871 23 114 48 2
Low 2409 2148 1626 563 1068 406 4141 2060 2859 389 1340 1558 173 1 1198 2760 4
Below cutoff 23 816 60 58 832 58 36 124 4 6 5 5 4 28 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF547055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA104939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA211842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA218716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA326404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA397309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA398982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA494496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA718424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361229   ⟹   ENSP00000354675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX102,720,726 - 102,752,441 (+)Ensembl
RefSeq Acc Id: ENST00000372735   ⟹   ENSP00000361820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX102,746,094 - 102,753,540 (+)Ensembl
RefSeq Acc Id: ENST00000447531   ⟹   ENSP00000405893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX102,745,979 - 102,752,438 (+)Ensembl
RefSeq Acc Id: ENST00000448867   ⟹   ENSP00000391722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX102,745,979 - 102,752,438 (+)Ensembl
RefSeq Acc Id: ENST00000457056   ⟹   ENSP00000403226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX102,720,743 - 102,753,540 (+)Ensembl
RefSeq Acc Id: ENST00000483294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX102,720,688 - 102,748,881 (+)Ensembl
RefSeq Acc Id: ENST00000486988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX102,720,764 - 102,748,735 (+)Ensembl
RefSeq Acc Id: NM_001142524   ⟹   NP_001135996
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,720,743 - 102,753,540 (+)NCBI
GRCh37X101,975,642 - 102,008,468 (+)NCBI
CeleraX102,414,680 - 102,446,406 (+)RGD
HuRefX91,641,229 - 91,672,865 (+)ENTREZGENE
CHM1_1X101,868,307 - 101,900,034 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001142525   ⟹   NP_001135997
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,720,743 - 102,753,540 (+)NCBI
GRCh37X101,975,642 - 102,008,468 (+)NCBI
CeleraX102,414,680 - 102,446,406 (+)RGD
HuRefX91,641,229 - 91,672,865 (+)ENTREZGENE
CHM1_1X101,868,307 - 101,900,034 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001142526   ⟹   NP_001135998
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,720,743 - 102,753,540 (+)NCBI
GRCh37X101,975,642 - 102,008,468 (+)NCBI
CeleraX102,414,680 - 102,446,406 (+)RGD
HuRefX91,641,229 - 91,672,865 (+)ENTREZGENE
CHM1_1X101,868,307 - 101,900,034 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001142527   ⟹   NP_001135999
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,720,743 - 102,753,540 (+)NCBI
GRCh37X101,975,642 - 102,008,468 (+)NCBI
CeleraX102,414,680 - 102,446,406 (+)RGD
HuRefX91,641,229 - 91,672,865 (+)ENTREZGENE
CHM1_1X101,868,307 - 101,900,034 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001142528   ⟹   NP_001136000
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,720,743 - 102,753,540 (+)NCBI
GRCh37X101,975,642 - 102,008,468 (+)NCBI
CeleraX102,414,680 - 102,446,406 (+)RGD
HuRefX91,641,229 - 91,672,865 (+)ENTREZGENE
CHM1_1X101,868,307 - 101,900,034 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001142529   ⟹   NP_001136001
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,745,979 - 102,752,441 (+)NCBI
GRCh37X101,975,642 - 102,008,468 (+)NCBI
CeleraX102,414,680 - 102,446,406 (+)RGD
HuRefX91,641,229 - 91,672,865 (+)ENTREZGENE
CHM1_1X101,893,572 - 101,900,034 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001142530   ⟹   NP_001136002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,745,979 - 102,752,441 (+)NCBI
GRCh37X101,975,642 - 102,008,468 (+)NCBI
CeleraX102,414,680 - 102,446,406 (+)RGD
HuRefX91,641,229 - 91,672,865 (+)ENTREZGENE
CHM1_1X101,893,572 - 101,900,034 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030639   ⟹   NP_085142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,720,743 - 102,753,540 (+)NCBI
GRCh37X101,975,642 - 102,008,468 (+)NCBI
Build 36X101,862,310 - 101,894,024 (+)NCBI Archive
CeleraX102,414,680 - 102,446,406 (+)RGD
HuRefX91,641,229 - 91,672,865 (+)ENTREZGENE
CHM1_1X101,868,307 - 101,900,034 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001136001   ⟸   NM_001142529
- UniProtKB: Q6PI77 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001136002   ⟸   NM_001142530
- UniProtKB: Q6PI77 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_085142   ⟸   NM_030639
- UniProtKB: Q6PI77 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135996   ⟸   NM_001142524
- UniProtKB: Q6PI77 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135997   ⟸   NM_001142525
- UniProtKB: Q6PI77 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135998   ⟸   NM_001142526
- UniProtKB: Q6PI77 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135999   ⟸   NM_001142527
- UniProtKB: Q6PI77 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001136000   ⟸   NM_001142528
- UniProtKB: Q6PI77 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000361820   ⟸   ENST00000372735
RefSeq Acc Id: ENSP00000354675   ⟸   ENST00000361229
RefSeq Acc Id: ENSP00000403226   ⟸   ENST00000457056
RefSeq Acc Id: ENSP00000405893   ⟸   ENST00000447531
RefSeq Acc Id: ENSP00000391722   ⟸   ENST00000448867

Promoters
RGD ID:6808544
Promoter ID:HG_KWN:67567
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:NM_001142524,   NM_001142525,   NM_001142526,   NM_001142527,   NM_001142528,   OTTHUMT00000057631,   OTTHUMT00000057632
Position:
Human AssemblyChrPosition (strand)Source
Build 36X101,862,099 - 101,862,599 (+)MPROMDB
RGD ID:13627680
Promoter ID:EPDNEW_H29115
Type:initiation region
Name:BHLHB9_2
Description:basic helix-loop-helix family member b9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29116  EPDNEW_H29117  EPDNEW_H29118  EPDNEW_H29119  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,712,448 - 102,712,508EPDNEW
RGD ID:13627682
Promoter ID:EPDNEW_H29116
Type:initiation region
Name:BHLHB9_4
Description:basic helix-loop-helix family member b9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29115  EPDNEW_H29117  EPDNEW_H29118  EPDNEW_H29119  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,712,857 - 102,712,917EPDNEW
RGD ID:13627684
Promoter ID:EPDNEW_H29117
Type:single initiation site
Name:BHLHB9_5
Description:basic helix-loop-helix family member b9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29115  EPDNEW_H29116  EPDNEW_H29118  EPDNEW_H29119  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,720,526 - 102,720,586EPDNEW
RGD ID:13627686
Promoter ID:EPDNEW_H29118
Type:initiation region
Name:BHLHB9_1
Description:basic helix-loop-helix family member b9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29115  EPDNEW_H29116  EPDNEW_H29117  EPDNEW_H29119  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,720,743 - 102,720,803EPDNEW
RGD ID:13627688
Promoter ID:EPDNEW_H29119
Type:single initiation site
Name:BHLHB9_3
Description:basic helix-loop-helix family member b9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29115  EPDNEW_H29116  EPDNEW_H29117  EPDNEW_H29118  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,748,709 - 102,748,769EPDNEW

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
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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 Xq22.1(chrX:102510903-102866851)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051425]|See cases [RCV000051425] ChrX:102510903..102866851 [GRCh38]
ChrX:101773567..102121779 [GRCh37]
ChrX:101652487..102008435 [NCBI36]
ChrX:Xq22.1
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 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 Xq22.1-22.3(chrX:101407698-106274188)x1 copy number loss See cases [RCV000051715] ChrX:101407698..106274188 [GRCh38]
ChrX:100772737..105517404 [GRCh37]
ChrX:100549342..105404060 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] ChrX:102070552..108264804 [GRCh38]
ChrX:101325524..107508034 [GRCh37]
ChrX:101212180..107394690 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 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 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 Xq22.1-22.3(chrX:101620923-107632397)x3 copy number gain See cases [RCV000052441] ChrX:101620923..107632397 [GRCh38]
ChrX:100875913..106875627 [GRCh37]
ChrX:100762569..106762283 [NCBI36]
ChrX:Xq22.1-22.3
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-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 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: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 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 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 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 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 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 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 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 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 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 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: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 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 Xq21.33-22.3(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 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 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 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
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-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: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:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [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 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
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 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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: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 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 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 Xp21.2-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:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
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 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq22.1(chrX:100852505-101986687)x0 copy number loss See cases [RCV000512439] ChrX:100852505..101986687 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
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 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: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
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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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
NM_001142524.2(BHLHB9):c.1285C>T (p.Leu429=) single nucleotide variant not provided [RCV000938518] ChrX:102750280 [GRCh38]
ChrX:102005208 [GRCh37]
ChrX:Xq22.1
likely benign
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 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001142524.2(BHLHB9):c.123G>A (p.Arg41=) single nucleotide variant not provided [RCV000962800] ChrX:102749118 [GRCh38]
ChrX:102004046 [GRCh37]
ChrX:Xq22.1
benign
NM_001142524.2(BHLHB9):c.1191A>G (p.Arg397=) single nucleotide variant not provided [RCV000914826] ChrX:102750186 [GRCh38]
ChrX:102005114 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001142524.2(BHLHB9):c.956A>C (p.Tyr319Ser) single nucleotide variant not provided [RCV000897546] ChrX:102749951 [GRCh38]
ChrX:102004879 [GRCh37]
ChrX:Xq22.1
benign
GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993775] ChrX:101029649..106702784 [GRCh37]
ChrX:Xq22.1-22.3
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 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
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 Xq22.1-22.2(chrX:100866604-103411980)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993772] ChrX:100866604..103411980 [GRCh37]
ChrX:Xq22.1-22.2
pathogenic
GRCh37/hg19 Xq22.1(chrX:100868897-102422345)x1 copy number loss not provided [RCV000846776] ChrX:100868897..102422345 [GRCh37]
ChrX:Xq22.1
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_001142524.2(BHLHB9):c.952T>C (p.Cys318Arg) single nucleotide variant not provided [RCV000891186] ChrX:102749947 [GRCh38]
ChrX:102004875 [GRCh37]
ChrX:Xq22.1
benign
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 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
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:29353 AgrOrtholog
COSMIC BHLHB9 COSMIC
Ensembl Genes ENSG00000198908 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000354675 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361820 UniProtKB/Swiss-Prot
  ENSP00000391722 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403226 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000405893 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361229 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372735 UniProtKB/Swiss-Prot
  ENST00000447531 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000448867 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000457056 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000198908 GTEx
HGNC ID HGNC:29353 ENTREZGENE
Human Proteome Map BHLHB9 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot
  ARM-rpt_dom UniProtKB/Swiss-Prot
  ARM-type_fold UniProtKB/Swiss-Prot
  BHLHb9/GASP-1/GASP-2 UniProtKB/Swiss-Prot
KEGG Report hsa:80823 UniProtKB/Swiss-Prot
NCBI Gene 80823 ENTREZGENE
OMIM 300921 OMIM
PANTHER PTHR46414 UniProtKB/Swiss-Prot
Pfam Arm_2 UniProtKB/Swiss-Prot
PharmGKB PA134895992 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot
UniProt BHLH9_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q9C0G2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-07 BHLHB9  basic helix-loop-helix family member b9    basic helix-loop-helix domain containing, class B, 9  Symbol and/or name change 5135510 APPROVED
2011-09-13 BHLHB9  basic helix-loop-helix domain containing, class B, 9  BHLHB9  basic helix-loop-helix domain containing, class B, 9  Symbol and/or name change 5135510 APPROVED