BAZ1B (bromodomain adjacent to zinc finger domain 1B) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: BAZ1B (bromodomain adjacent to zinc finger domain 1B) Homo sapiens
Analyze
Symbol: BAZ1B
Name: bromodomain adjacent to zinc finger domain 1B
RGD ID: 1314248
HGNC Page HGNC:961
Description: Enables histone H2AY142 kinase activity. Involved in several processes, including negative regulation of mitotic chromosome condensation; positive regulation of transcription by RNA polymerase III; and post-translational protein modification. Located in B-WICH complex; WICH complex; and nuclear body. Colocalizes with nuclear replication fork.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bromodomain adjacent to zinc finger domain protein 1B; bromodomain adjacent to zinc finger domain, 1B; hWALp2; transcription factor WSTF; tyrosine-protein kinase BAZ1B; WBSCR10; WBSCR9; williams syndrome transcription factor; williams-Beuren syndrome chromosomal region 10 protein; williams-Beuren syndrome chromosomal region 9 protein; Williams-Beuren syndrome chromosome region 10; Williams-Beuren syndrome chromosome region 9; WSTF
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38773,440,406 - 73,522,293 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl773,440,406 - 73,522,293 (-)EnsemblGRCh38hg38GRCh38
GRCh37772,854,736 - 72,936,623 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36772,492,676 - 72,574,544 (-)NCBINCBI36Build 36hg18NCBI36
Build 34772,299,383 - 72,381,200NCBI
Celera768,332,639 - 68,414,529 (-)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef768,736,057 - 68,818,392 (-)NCBIHuRef
CHM1_1773,000,196 - 73,082,038 (-)NCBICHM1_1
T2T-CHM13v2.0774,640,900 - 74,722,781 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2772,187,800 - 72,269,687 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal circulating lipid concentration  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal endocardium morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal gastric mucosa morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal tubulointerstitial morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of the ankles  (IAGP)
Abnormality of the diencephalon  (IAGP)
Adducted thumb  (IAGP)
Anxiety  (IAGP)
Aortic arch aneurysm  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Arterial stenosis  (IAGP)
Arthralgia  (IAGP)
Atrial septal defect  (IAGP)
Atrophy/Degeneration involving the corticospinal tracts  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Bicuspid aortic valve  (IAGP)
Bladder diverticulum  (IAGP)
Blepharophimosis  (IAGP)
Blue irides  (IAGP)
Broad forehead  (IAGP)
Cardiomegaly  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral ischemia  (IAGP)
Chiari malformation  (IAGP)
Cholelithiasis  (IAGP)
Chronic otitis media  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Colonic diverticula  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Death in early adulthood  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental malocclusion  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Down-sloping shoulders  (IAGP)
Dysarthria  (IAGP)
Dysgraphia  (IAGP)
Dysmetria  (IAGP)
Dysphonia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elfin facies  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive in infancy  (IAGP)
Flat cornea  (IAGP)
Functional abnormality of male internal genitalia  (IAGP)
Gait imbalance  (IAGP)
Gastroesophageal reflux  (IAGP)
Genu valgum  (IAGP)
Gingival overgrowth  (IAGP)
Glaucoma  (IAGP)
Hallux valgus  (IAGP)
High forehead  (IAGP)
High hypermetropia  (IAGP)
Hoarse voice  (IAGP)
Hyperacusis  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hyperlordosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypodontia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypoplastic toenails  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Increased bone mineral density  (IAGP)
Increased nuchal translucency  (IAGP)
Inguinal hernia  (IAGP)
Insomnia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Joint hyperflexibility  (IAGP)
Joint laxity  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Lacrimation abnormality  (IAGP)
Long philtrum  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Malabsorption  (IAGP)
Megalocornea  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Multiple renal cysts  (IAGP)
Myocardial infarction  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Narrow face  (IAGP)
Nausea and vomiting  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Nevus flammeus  (IAGP)
Nystagmus-induced head nodding  (IAGP)
Obesity  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Open bite  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Overfriendliness  (IAGP)
Overriding aorta  (IAGP)
Patellar dislocation  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Pelvic kidney  (IAGP)
Peptic ulcer  (IAGP)
Periorbital edema  (IAGP)
Peripheral pulmonary artery stenosis  (IAGP)
Pes planus  (IAGP)
Phonophobia  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Pointed chin  (IAGP)
Polycystic ovaries  (IAGP)
Posterior embryotoxon  (IAGP)
Precocious puberty  (IAGP)
Prematurely aged appearance  (IAGP)
Proteinuria  (IAGP)
Protruding ear  (IAGP)
Pulmonic stenosis  (IAGP)
Radioulnar synostosis  (IAGP)
Rectal prolapse  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Redundant skin  (IAGP)
Renal duplication  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Renovascular hypertension  (IAGP)
Retinal arteriolar tortuosity  (IAGP)
Sacral dimple  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Spasticity  (IAGP)
Spina bifida occulta  (IAGP)
Strabismus  (IAGP)
Stroke  (IAGP)
Sudden cardiac death  (IAGP)
Supravalvular aortic stenosis  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick lower lip vermilion  (IAGP)
Tracheoesophageal fistula  (IAGP)
Tremor  (IAGP)
Type II diabetes mellitus  (IAGP)
Umbilical hernia  (IAGP)
Urethral stenosis  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral segmentation defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. Hargreaves DC and Crabtree GR, Cell Res. 2011 Mar;21(3):396-420. doi: 10.1038/cr.2011.32. Epub 2011 Mar 1.
3. Push back to respond better: regulatory inhibition of the DNA double-strand break response. Panier S and Durocher D, Nat Rev Mol Cell Biol. 2013 Oct;14(10):661-72. doi: 10.1038/nrm3659. Epub 2013 Sep 4.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9828126   PMID:9847074   PMID:9858827   PMID:10662543   PMID:11124022   PMID:11980720   PMID:12477932   PMID:12769854   PMID:12853948   PMID:14702039   PMID:15302935   PMID:15543136  
PMID:15635413   PMID:16344560   PMID:16514417   PMID:16565220   PMID:16603771   PMID:17081983   PMID:18162579   PMID:19060906   PMID:19060911   PMID:19092802   PMID:19394292   PMID:19454010  
PMID:19656773   PMID:19913121   PMID:20139978   PMID:20195357   PMID:20580033   PMID:20628086   PMID:20657596   PMID:20802025   PMID:20864672   PMID:21326359   PMID:21490707   PMID:21555454  
PMID:21873635   PMID:21907836   PMID:22412018   PMID:22586326   PMID:22751105   PMID:22939629   PMID:23085504   PMID:23263486   PMID:23319141   PMID:23505323   PMID:23555303   PMID:23752268  
PMID:24457600   PMID:24711643   PMID:24800743   PMID:24981860   PMID:25665578   PMID:25693804   PMID:26044184   PMID:26468281   PMID:26496610   PMID:26514267   PMID:26755828   PMID:27449264  
PMID:27449290   PMID:28077445   PMID:28514442   PMID:28610873   PMID:28977666   PMID:29021563   PMID:29180619   PMID:29467282   PMID:29478914   PMID:29507755   PMID:29509190   PMID:29568061  
PMID:29911972   PMID:29955894   PMID:30021884   PMID:30266865   PMID:30462309   PMID:30463901   PMID:30471916   PMID:30554943   PMID:30585729   PMID:30804502   PMID:30948266   PMID:31045206  
PMID:31076518   PMID:31091453   PMID:31177093   PMID:31180492   PMID:31248990   PMID:31527615   PMID:31586073   PMID:31753913   PMID:31840056   PMID:31995728   PMID:32051553   PMID:32081709  
PMID:32241891   PMID:32278351   PMID:32344865   PMID:32416067   PMID:32513696   PMID:32518374   PMID:32538781   PMID:32744500   PMID:32780723   PMID:33106477   PMID:33301849   PMID:33306668  
PMID:33517564   PMID:33658012   PMID:33742100   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34028125   PMID:34079125   PMID:34784707   PMID:34795231   PMID:35013218   PMID:35140242  
PMID:35271311   PMID:35654790   PMID:35776542   PMID:35831314   PMID:35850772  


Genomics

Comparative Map Data
BAZ1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38773,440,406 - 73,522,293 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl773,440,406 - 73,522,293 (-)EnsemblGRCh38hg38GRCh38
GRCh37772,854,736 - 72,936,623 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36772,492,676 - 72,574,544 (-)NCBINCBI36Build 36hg18NCBI36
Build 34772,299,383 - 72,381,200NCBI
Celera768,332,639 - 68,414,529 (-)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef768,736,057 - 68,818,392 (-)NCBIHuRef
CHM1_1773,000,196 - 73,082,038 (-)NCBICHM1_1
T2T-CHM13v2.0774,640,900 - 74,722,781 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2772,187,800 - 72,269,687 (-)NCBI
Baz1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395135,214,094 - 135,274,985 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5135,216,118 - 135,274,983 (+)EnsemblGRCm39 Ensembl
GRCm385135,187,323 - 135,246,131 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5135,187,264 - 135,246,129 (+)EnsemblGRCm38mm10GRCm38
MGSCv375135,663,193 - 135,721,999 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365135,471,986 - 135,529,194 (+)NCBIMGSCv36mm8
Celera5132,199,039 - 132,257,800 (+)NCBICelera
Cytogenetic Map5G2NCBI
Baz1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21221,431,985 - 21,489,956 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1221,431,985 - 21,490,426 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1222,573,589 - 22,631,630 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01223,185,918 - 23,243,954 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01222,252,394 - 22,310,416 (-)NCBIRnor_WKY
Rnor_6.01224,478,882 - 24,536,851 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1224,478,898 - 24,537,313 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01226,476,185 - 26,534,154 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41222,586,411 - 22,644,378 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1223,194,558 - 23,252,515 (-)NCBICelera
Cytogenetic Map12q12NCBI
Baz1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545614,185,107 - 14,240,688 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545614,185,091 - 14,242,391 (+)NCBIChiLan1.0ChiLan1.0
BAZ1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1780,594,629 - 80,675,645 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl780,594,626 - 80,675,709 (-)Ensemblpanpan1.1panPan2
BAZ1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.166,709,648 - 6,776,904 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl66,709,697 - 6,776,867 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha68,406,933 - 8,475,941 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.066,524,701 - 6,594,233 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl66,524,385 - 6,592,296 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.166,514,050 - 6,569,390 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.066,461,859 - 6,531,708 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.066,625,515 - 6,694,618 (+)NCBIUU_Cfam_GSD_1.0
Baz1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344131,246,801 - 131,322,970 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365432,713,589 - 2,779,993 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365432,713,575 - 2,779,947 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BAZ1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl310,761,499 - 10,843,840 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1310,761,461 - 10,843,918 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2310,460,760 - 10,543,482 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BAZ1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1289,533,802 - 9,617,164 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl289,534,114 - 9,617,190 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660706,855,992 - 6,938,041 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Baz1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474014,248,274 - 14,319,823 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474014,247,972 - 14,319,713 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BAZ1B
52 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1200
Count of miRNA genes:686
Interacting mature miRNAs:793
Transcripts:ENST00000339594, ENST00000404251, ENST00000466844
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
GDB:1317822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,858,281 - 72,858,473UniSTSGRCh37
Build 36772,496,217 - 72,496,409RGDNCBI36
Celera768,336,192 - 68,336,384RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,739,609 - 68,739,801UniSTS
CRA_TCAGchr7v2772,191,353 - 72,191,545UniSTS
GDB:1318124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,875,690 - 72,875,808UniSTSGRCh37
Build 36772,513,626 - 72,513,744RGDNCBI36
Celera768,353,605 - 68,353,723RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,756,979 - 68,757,097UniSTS
CRA_TCAGchr7v2772,208,762 - 72,208,880UniSTS
GDB:4585423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,856,650 - 72,856,747UniSTSGRCh37
Build 36772,494,586 - 72,494,683RGDNCBI36
Celera768,334,561 - 68,334,658RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,737,978 - 68,738,075UniSTS
CRA_TCAGchr7v2772,189,722 - 72,189,819UniSTS
G20570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,854,744 - 72,854,912UniSTSGRCh37
GRCh371087,766,472 - 87,766,632UniSTSGRCh37
Build 36772,492,680 - 72,492,848RGDNCBI36
Celera1081,761,890 - 81,762,051UniSTS
Celera768,332,655 - 68,332,823RGD
Cytogenetic Map10q22UniSTS
Cytogenetic Map7q11.23UniSTS
HuRef1081,611,984 - 81,612,145UniSTS
HuRef768,736,073 - 68,736,240UniSTS
CRA_TCAGchr7v2772,187,816 - 72,187,984UniSTS
D7S3288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,858,545 - 72,859,782UniSTSGRCh37
Build 36772,496,481 - 72,497,718RGDNCBI36
Celera768,336,456 - 68,337,693RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,739,873 - 68,741,110UniSTS
CRA_TCAGchr7v2772,191,617 - 72,192,854UniSTS
D7S3289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,862,789 - 72,862,944UniSTSGRCh37
Build 36772,500,725 - 72,500,880RGDNCBI36
Celera768,340,700 - 68,340,855RGD
Cytogenetic Map7q11.23UniSTS
CRA_TCAGchr7v2772,195,861 - 72,196,016UniSTS
D7S3300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,936,230 - 72,936,475UniSTSGRCh37
Build 36772,574,166 - 72,574,411RGDNCBI36
Celera768,414,144 - 68,414,389RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,818,007 - 68,818,252UniSTS
CRA_TCAGchr7v2772,269,302 - 72,269,547UniSTS
D7S3301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,891,753 - 72,892,762UniSTSGRCh37
Build 36772,529,689 - 72,530,698RGDNCBI36
Celera768,369,668 - 68,370,677RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,773,037 - 68,774,046UniSTS
CRA_TCAGchr7v2772,224,825 - 72,225,834UniSTS
D7S2024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,907,813 - 72,907,917UniSTSGRCh37
Build 36772,545,749 - 72,545,853RGDNCBI36
Celera768,385,728 - 68,385,832RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,789,609 - 68,789,713UniSTS
CRA_TCAGchr7v2772,240,885 - 72,240,989UniSTS
GDB:1318352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,861,207 - 72,861,332UniSTSGRCh37
Build 36772,499,143 - 72,499,268RGDNCBI36
Celera768,339,118 - 68,339,243RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,742,535 - 68,742,660UniSTS
CRA_TCAGchr7v2772,194,279 - 72,194,404UniSTS
GDB:1317820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,883,854 - 72,884,048UniSTSGRCh37
Build 36772,521,790 - 72,521,984RGDNCBI36
Celera768,361,769 - 68,361,963RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,765,142 - 68,765,336UniSTS
CRA_TCAGchr7v2772,216,926 - 72,217,120UniSTS
RH65972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,879,395 - 72,879,474UniSTSGRCh37
Build 36772,517,331 - 72,517,410RGDNCBI36
Celera768,357,310 - 68,357,389RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,760,683 - 68,760,762UniSTS
CRA_TCAGchr7v2772,212,467 - 72,212,546UniSTS
GeneMap99-GB4 RH Map7423.57UniSTS
NCBI RH Map7894.5UniSTS
GDB:1317340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,883,680 - 72,883,770UniSTSGRCh37
Build 36772,521,616 - 72,521,706RGDNCBI36
Celera768,361,595 - 68,361,685RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,764,968 - 68,765,058UniSTS
CRA_TCAGchr7v2772,216,752 - 72,216,842UniSTS
GDB:4585619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,864,686 - 72,864,773UniSTSGRCh37
Build 36772,502,622 - 72,502,709RGDNCBI36
Celera768,342,597 - 68,342,684RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,746,014 - 68,746,101UniSTS
CRA_TCAGchr7v2772,197,758 - 72,197,845UniSTS
GDB:1318100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,892,419 - 72,892,512UniSTSGRCh37
Build 36772,530,355 - 72,530,448RGDNCBI36
Celera768,370,334 - 68,370,427RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,773,703 - 68,773,796UniSTS
CRA_TCAGchr7v2772,225,491 - 72,225,584UniSTS
GDB:1318116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,862,865 - 72,862,929UniSTSGRCh37
Build 36772,500,801 - 72,500,865RGDNCBI36
Celera768,340,776 - 68,340,840RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,744,193 - 68,744,257UniSTS
CRA_TCAGchr7v2772,195,937 - 72,196,001UniSTS
BAZ1B_3920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,854,753 - 72,855,553UniSTSGRCh37
GRCh371087,766,481 - 87,767,277UniSTSGRCh37
Build 36772,492,689 - 72,493,489RGDNCBI36
Celera768,332,664 - 68,333,464RGD
Celera1081,761,899 - 81,762,696UniSTS
HuRef768,736,082 - 68,736,881UniSTS
HuRef1081,611,993 - 81,612,790UniSTS
CRA_TCAGchr7v2772,187,825 - 72,188,625UniSTS
RH17036  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.23UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2411 2111 1561 468 1356 310 4324 1961 3480 350 1449 1606 171 1203 2760 4
Low 28 880 165 156 595 155 33 236 254 69 11 7 4 1 1 28 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB032253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF072810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF084479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU632531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA739467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000339594   ⟹   ENSP00000342434
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl773,440,406 - 73,522,293 (-)Ensembl
RefSeq Acc Id: ENST00000404251   ⟹   ENSP00000385442
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl773,441,565 - 73,522,278 (-)Ensembl
RefSeq Acc Id: ENST00000466844
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl773,462,464 - 73,466,387 (-)Ensembl
RefSeq Acc Id: NM_001370402   ⟹   NP_001357331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,440,406 - 73,522,293 (-)NCBI
T2T-CHM13v2.0774,640,900 - 74,722,781 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032408   ⟹   NP_115784
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,440,406 - 73,522,293 (-)NCBI
GRCh37772,854,728 - 72,936,628 (-)NCBI
Build 36772,492,676 - 72,574,544 (-)NCBI Archive
HuRef768,736,057 - 68,818,392 (-)ENTREZGENE
CHM1_1773,000,196 - 73,082,038 (-)NCBI
T2T-CHM13v2.0774,640,900 - 74,722,781 (-)NCBI
CRA_TCAGchr7v2772,187,800 - 72,269,687 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_047421016   ⟹   XP_047276972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,462,922 - 73,522,293 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_115784   ⟸   NM_032408
- UniProtKB: Q86UJ6 (UniProtKB/Swiss-Prot),   Q9UIG0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001357331   ⟸   NM_001370402
- UniProtKB: Q86UJ6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000342434   ⟸   ENST00000339594
RefSeq Acc Id: ENSP00000385442   ⟸   ENST00000404251
RefSeq Acc Id: XP_047276972   ⟸   XM_047421016
- Peptide Label: isoform X1
Protein Domains
Bromo   DDT   WAC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UIG0-F1-model_v2 AlphaFold Q9UIG0 1-1483 view protein structure

Promoters
RGD ID:6805498
Promoter ID:HG_KWN:57955
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:ENST00000404251,   NM_032408
Position:
Human AssemblyChrPosition (strand)Source
Build 36772,574,271 - 72,574,947 (-)MPROMDB
RGD ID:7210761
Promoter ID:EPDNEW_H11126
Type:initiation region
Name:BAZ1B_1
Description:bromodomain adjacent to zinc finger domain 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,522,293 - 73,522,353EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11
pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3 copy number gain See cases [RCV000050379] Chr7:73352304..74719013 [GRCh38]
Chr7:72766313..74133332 [GRCh37]
Chr7:72404249..73771268 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1 copy number loss See cases [RCV000050382] Chr7:73352304..74719013 [GRCh38]
Chr7:72766313..74133332 [GRCh37]
Chr7:72404249..73771268 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 copy number loss See cases [RCV000051134] Chr7:73352304..74924037 [GRCh38]
Chr7:72766313..74339044 [GRCh37]
Chr7:72404249..73976980 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1 copy number loss See cases [RCV000050996] Chr7:72930548..74869255 [GRCh38]
Chr7:72401086..74285345 [GRCh37]
Chr7:72039022..73923281 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1 copy number loss See cases [RCV000050999] Chr7:73352304..74869255 [GRCh38]
Chr7:72766313..74285345 [GRCh37]
Chr7:72404249..73923281 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11
pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1 copy number loss See cases [RCV000052321] Chr7:68668307..73710276 [GRCh38]
Chr7:68133294..72806397 [GRCh37]
Chr7:67771230..72762542 [NCBI36]
Chr7:7q11.22-11.23
pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3 copy number gain See cases [RCV000051965] Chr7:72649515..75361855 [GRCh38]
Chr7:72196405..74991125 [GRCh37]
Chr7:71752436..74829061 [NCBI36]
Chr7:7q11.22-11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3 copy number gain See cases [RCV000051966] Chr7:72768821..74869255 [GRCh38]
Chr7:72233835..74285345 [GRCh37]
Chr7:71871771..73923281 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3 copy number gain See cases [RCV000051967] Chr7:73280574..74725240 [GRCh38]
Chr7:72665462..74139573 [GRCh37]
Chr7:72303398..73777509 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3 copy number gain See cases [RCV000051986] Chr7:73280574..74725240 [GRCh38]
Chr7:72679397..74139573 [GRCh37]
Chr7:72317333..73777509 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3 copy number gain See cases [RCV000051989] Chr7:73280574..74839100 [GRCh38]
Chr7:72683244..74267189 [GRCh37]
Chr7:72321180..73905125 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73312575-74723034)x3 copy number gain See cases [RCV000051990] Chr7:73312575..74723034 [GRCh38]
Chr7:72726571..74137354 [GRCh37]
Chr7:72364507..73775290 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74924178)x3 copy number gain See cases [RCV000051991] Chr7:73352104..74924178 [GRCh38]
Chr7:72766113..74339185 [GRCh37]
Chr7:72404049..73977121 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1 copy number loss See cases [RCV000053133] Chr7:73096542..74727989 [GRCh38]
Chr7:72507129..74142327 [GRCh37]
Chr7:72145065..73780263 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1 copy number loss See cases [RCV000053143] Chr7:73280574..74723034 [GRCh38]
Chr7:72681397..74137354 [GRCh37]
Chr7:72319333..73775290 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1 copy number loss See cases [RCV000053144] Chr7:73286412..74723034 [GRCh38]
Chr7:72700414..74137354 [GRCh37]
Chr7:72338350..73775290 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3 copy number gain See cases [RCV000053146] Chr7:73286412..74725240 [GRCh38]
Chr7:72700414..74139573 [GRCh37]
Chr7:72338350..73777509 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1 copy number loss See cases [RCV000053147] Chr7:73286412..74725240 [GRCh38]
Chr7:72700414..74139573 [GRCh37]
Chr7:72338350..73777509 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1 copy number loss See cases [RCV000053150] Chr7:73286412..74707848 [GRCh38]
Chr7:72700414..74122179 [GRCh37]
Chr7:72338350..73760115 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74719154)x3 copy number gain See cases [RCV000053151] Chr7:73352104..74719154 [GRCh38]
Chr7:72766113..74133473 [GRCh37]
Chr7:72404049..73771409 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74719154)x1 copy number loss See cases [RCV000053152] Chr7:73352104..74719154 [GRCh38]
Chr7:72766113..74133473 [GRCh37]
Chr7:72404049..73771409 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74133404)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054116]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054116]|See cases [RCV000054116] Chr7:73352304..74133404 [GRCh38]
Chr7:72404249..73185670 [NCBI36]
Chr7:7q11.23
pathogenic
NM_032408.3(BAZ1B):c.1084C>T (p.Pro362Ser) single nucleotide variant Malignant melanoma [RCV000061674] Chr7:73478377 [GRCh38]
Chr7:72892707 [GRCh37]
Chr7:72530643 [NCBI36]
Chr7:7q11.23
not provided
GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 copy number loss See cases [RCV000133638] Chr7:73352304..76722261 [GRCh38]
Chr7:72766313..76351578 [GRCh37]
Chr7:72404249..76189514 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1 copy number loss See cases [RCV000134329] Chr7:73304255..74718954 [GRCh38]
Chr7:72718252..74133273 [GRCh37]
Chr7:72356188..73771209 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1 copy number loss See cases [RCV000135816] Chr7:71461127..73614730 [GRCh38]
Chr7:70926112..72806397 [GRCh37]
Chr7:70564048..72666996 [NCBI36]
Chr7:7q11.22-11.23
pathogenic|likely pathogenic
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 copy number gain See cases [RCV000135712] Chr7:73040501..75255046 [GRCh38]
Chr7:74285295..76351578 [GRCh37]
Chr7:73923231..76189514 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3 copy number gain See cases [RCV000136287] Chr7:72938064..74779028 [GRCh38]
Chr7:72408602..74193374 [GRCh37]
Chr7:72046538..73831310 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1 copy number loss See cases [RCV000136391] Chr7:73280574..74924007 [GRCh38]
Chr7:72636006..74339014 [GRCh37]
Chr7:72273942..73976950 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74719008)x3 copy number gain See cases [RCV000136042] Chr7:73352303..74719008 [GRCh38]
Chr7:72766312..74133327 [GRCh37]
Chr7:72404248..73771263 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74719008)x1 copy number loss See cases [RCV000136046] Chr7:73352303..74719008 [GRCh38]
Chr7:72766312..74133327 [GRCh37]
Chr7:72404248..73771263 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1 copy number loss See cases [RCV000136076] Chr7:73352303..74924023 [GRCh38]
Chr7:72766312..74339030 [GRCh37]
Chr7:72404248..73976966 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1 copy number loss See cases [RCV000136014] Chr7:73352303..74779051 [GRCh38]
Chr7:72766312..74193397 [GRCh37]
Chr7:72404248..73831333 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1 copy number loss See cases [RCV000136793] Chr7:73312582..74725057 [GRCh38]
Chr7:72726578..74139390 [GRCh37]
Chr7:72364514..73777326 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3 copy number gain See cases [RCV000138102] Chr7:73192369..74779057 [GRCh38]
Chr7:72606409..74193403 [GRCh37]
Chr7:72244345..73831339 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1 copy number loss See cases [RCV000138103] Chr7:73192369..74779057 [GRCh38]
Chr7:72606409..74193403 [GRCh37]
Chr7:72244345..73831339 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-73556222)x1 copy number loss See cases [RCV000137730] Chr7:73286412..73556222 [GRCh38]
Chr7:72338350..72608488 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 copy number gain See cases [RCV000137731] Chr7:73040501..75255046 [GRCh38]
Chr7:72635638..74904285 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1 copy number loss See cases [RCV000138355] Chr7:73286412..74727989 [GRCh38]
Chr7:72700414..74142327 [GRCh37]
Chr7:72338350..73780263 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3 copy number gain See cases [RCV000138356] Chr7:73280574..74727989 [GRCh38]
Chr7:72685734..74142327 [GRCh37]
Chr7:72323670..73780263 [NCBI36]
Chr7:7q11.23
pathogenic|conflicting data from submitters
GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1 copy number loss See cases [RCV000138357] Chr7:73271690..74727989 [GRCh38]
Chr7:72685734..74142327 [GRCh37]
Chr7:72323670..73780263 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1 copy number loss See cases [RCV000139190] Chr7:73192369..74869255 [GRCh38]
Chr7:72606409..74285345 [GRCh37]
Chr7:72244345..73923281 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3 copy number gain See cases [RCV000139121] Chr7:73280574..74779057 [GRCh38]
Chr7:72663962..74193403 [GRCh37]
Chr7:72301898..73831339 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1 copy number loss See cases [RCV000139797] Chr7:73286412..74869255 [GRCh38]
Chr7:72700414..74285345 [GRCh37]
Chr7:72338350..73923281 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1 copy number loss See cases [RCV000140662] Chr7:73286412..74779057 [GRCh38]
Chr7:72700414..74193403 [GRCh37]
Chr7:72338350..73831339 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3 copy number gain See cases [RCV000140718] Chr7:73192369..74883978 [GRCh38]
Chr7:72606409..74300084 [GRCh37]
Chr7:72244345..73938020 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3 copy number gain See cases [RCV000141703] Chr7:73175475..74740268 [GRCh38]
Chr7:72589515..74154603 [GRCh37]
Chr7:72227451..73792539 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3 copy number gain See cases [RCV000142341] Chr7:73286125..74732517 [GRCh38]
Chr7:72700127..74146858 [GRCh37]
Chr7:72338063..73784794 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1 copy number loss See cases [RCV000142414] Chr7:73280574..74789341 [GRCh38]
Chr7:72637824..74203685 [GRCh37]
Chr7:72275760..73841621 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 copy number gain See cases [RCV000142242] Chr7:62977085..75415352 [GRCh38]
Chr7:62437463..75044630 [GRCh37]
Chr7:62074898..74882566 [NCBI36]
Chr7:7q11.21-11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1 copy number loss See cases [RCV000142230] Chr7:73286508..74727852 [GRCh38]
Chr7:72700510..74142190 [GRCh37]
Chr7:72338446..73780126 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1 copy number loss See cases [RCV000142156] Chr7:73280574..74727918 [GRCh38]
Chr7:72650120..74142256 [GRCh37]
Chr7:72288056..73780192 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1 copy number loss See cases [RCV000142159] Chr7:73286522..74727156 [GRCh38]
Chr7:72700524..74141494 [GRCh37]
Chr7:72338460..73779430 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1 copy number loss See cases [RCV000142891] Chr7:73286412..74758583 [GRCh38]
Chr7:72700414..74172913 [GRCh37]
Chr7:72338350..73810849 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3 copy number gain See cases [RCV000142690] Chr7:73352304..75065728 [GRCh38]
Chr7:72766313..74481540 [GRCh37]
Chr7:72404249..74119476 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 copy number loss See cases [RCV000142528] Chr7:62736364..75432710 [GRCh38]
Chr7:62196742..75061986 [GRCh37]
Chr7:61834177..74899922 [NCBI36]
Chr7:7q11.21-11.23
pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11
likely pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3 copy number gain See cases [RCV000143390] Chr7:73280574..74728722 [GRCh38]
Chr7:72677301..74143060 [GRCh37]
Chr7:72315237..73780996 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1 copy number loss See cases [RCV000143344] Chr7:71478043..73444574 [GRCh38]
Chr7:70943028..72806397 [GRCh37]
Chr7:70580964..72496840 [NCBI36]
Chr7:7q11.22-11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3 copy number gain See cases [RCV000148080] Chr7:73352304..74719013 [GRCh38]
Chr7:72766313..74133332 [GRCh37]
Chr7:72404249..73771268 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 copy number loss See cases [RCV000148081] Chr7:73352304..74924037 [GRCh38]
Chr7:72766313..74339044 [GRCh37]
Chr7:72404249..73976980 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1 copy number loss See cases [RCV000143632] Chr7:73304280..74727852 [GRCh38]
Chr7:72718277..74142190 [GRCh37]
Chr7:72356213..73780126 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1 copy number loss See cases [RCV000148142] Chr7:73352304..74719013 [GRCh38]
Chr7:72766313..74133332 [GRCh37]
Chr7:72404249..73771268 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718252-74133332)x1 copy number loss See cases [RCV000239835] Chr7:72718252..74133332 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72708237-74339044)x1 copy number loss See cases [RCV000239823] Chr7:72708237..74339044 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74142190) copy number loss Williams syndrome [RCV002280674] Chr7:72718123..74142190 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74217390)x1 copy number loss See cases [RCV000258813] Chr7:72722981..74217390 [GRCh37]
Chr7:7q11.23
pathogenic|likely pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x1 copy number loss See cases [RCV000207450] Chr7:72722981..74141840 [GRCh37]
Chr7:7q11.23
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225382] Chr7:72718278..74140708 [GRCh37]
Chr7:7q11.23
pathogenic
Single allele duplication Intestinal malrotation [RCV000754986] Chr7:72634873..74142327 [GRCh37]
Chr7:7q11.23
likely pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:71968212-74133332)x3 copy number gain See cases [RCV000240527] Chr7:71968212..74133332 [GRCh37]
Chr7:7q11.22-11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72717369-74142224)x1 copy number loss not provided [RCV001270666] Chr7:72717369..74142224 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72713253-74142256)x1 copy number loss See cases [RCV000449356] Chr7:72713253..74142256 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141673)x1 copy number loss See cases [RCV000449372] Chr7:72718277..74141673 [GRCh37]
Chr7:7q11.23
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7q11.23(chr7:72700127-74143240)x3 copy number gain See cases [RCV000446793] Chr7:72700127..74143240 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72713253-74143030)x1 copy number loss See cases [RCV000447530] Chr7:72713253..74143030 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1 copy number loss See cases [RCV000447273] Chr7:72718277..74142190 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72708237-74133273)x1 copy number loss See cases [RCV000446832] Chr7:72708237..74133273 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:72686958-74142190)x3 copy number gain See cases [RCV000446236] Chr7:72686958..74142190 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1 copy number loss See cases [RCV000447620] Chr7:72718277..74141603 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74146948)x1 copy number loss See cases [RCV000446172] Chr7:72718277..74146948 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142215)x1 copy number loss See cases [RCV000447454] Chr7:72718277..74142215 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72692112-74141746)x3 copy number gain See cases [RCV000445755] Chr7:72692112..74141746 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72700524-74142190)x1 copy number loss See cases [RCV000447774] Chr7:72700524..74142190 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141784)x1 copy number loss See cases [RCV000448046] Chr7:72718277..74141784 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141746)x1 copy number loss See cases [RCV000448666] Chr7:72718123..74141746 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72472922-74259176)x3 copy number gain See cases [RCV000448344] Chr7:72472922..74259176 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72700524-74142256)x3 copy number gain See cases [RCV000512105] Chr7:72700524..74142256 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-73198616)x1 copy number loss See cases [RCV000515566] Chr7:72722981..73198616 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:72643631-74142190)x1 copy number loss See cases [RCV000512130] Chr7:72643631..74142190 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72677301-74143240)x3 copy number gain See cases [RCV000512048] Chr7:72677301..74143240 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74287433)x1 copy number loss See cases [RCV000510195] Chr7:72718277..74287433 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74259899)x1 copy number loss See cases [RCV000510198] Chr7:72718277..74259899 [GRCh37]
Chr7:7q11.23
pathogenic
NM_032408.4(BAZ1B):c.3071+1G>T single nucleotide variant not provided [RCV000509476] Chr7:73465438 [GRCh38]
Chr7:72879768 [GRCh37]
Chr7:7q11.23
not provided
GRCh37/hg19 7q11.23(chr7:72701018-74141493)x1 copy number loss See cases [RCV000510144] Chr7:72701018..74141493 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1 copy number loss See cases [RCV000510243] Chr7:72691242..74142190 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-73898515)x1 copy number loss See cases [RCV000511510] Chr7:72718277..73898515 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74146858)x1 copy number loss See cases [RCV000511528] Chr7:72718277..74146858 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72692112-74154497)x3 copy number gain See cases [RCV000511487] Chr7:72692112..74154497 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141494)x1 copy number loss See cases [RCV000511955] Chr7:72718277..74141494 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72677173-74143140)x3 copy number gain See cases [RCV000510884] Chr7:72677173..74143140 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1 copy number loss See cases [RCV000511254] Chr7:72718277..74141603 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74165401)x3 copy number gain See cases [RCV000510938] Chr7:72589515..74165401 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1 copy number loss See cases [RCV000510782] Chr7:72456604..76007380 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72766313-74133332) copy number loss Global developmental delay [RCV000626537] Chr7:72766313..74133332 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141746)x1 copy number loss See cases [RCV000512220] Chr7:72718277..74141746 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72536980-74629034)x1 copy number loss See cases [RCV000512310] Chr7:72536980..74629034 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74197846)x3 copy number gain See cases [RCV000512328] Chr7:72577021..74197846 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72659674-74143240)x3 copy number gain See cases [RCV000512332] Chr7:72659674..74143240 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72772522-74133319) copy number loss Short stature [RCV000626538] Chr7:72772522..74133319 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72686958-73113924)x3 copy number gain not provided [RCV000682843] Chr7:72686958..73113924 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:72700524-74069858)x3 copy number gain not provided [RCV000682883] Chr7:72700524..74069858 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1 copy number loss not provided [RCV000682885] Chr7:72718123..74141784 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3 copy number gain not provided [RCV000682888] Chr7:72576872..74175429 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3 copy number gain not provided [RCV000682898] Chr7:72577021..74859638 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1 copy number loss not provided [RCV000682892] Chr7:72608514..74386749 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72701018-74143240)x3 copy number gain not provided [RCV000682886] Chr7:72701018..74143240 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1 copy number loss not provided [RCV000682895] Chr7:72612042..74574641 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1 copy number loss not provided [RCV000682894] Chr7:72589515..74386749 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74147166)x3 copy number gain not provided [RCV000682887] Chr7:72577021..74147166 [GRCh37]
Chr7:7q11.23
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7q11.23(chr7:72719386-74218536)x1 copy number loss not provided [RCV000746793] Chr7:72719386..74218536 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74200092)x1 copy number loss not provided [RCV000746794] Chr7:72722981..74200092 [GRCh37]
Chr7:7q11.23
pathogenic
Single allele duplication Schizophrenia [RCV000754333] Chr7:73312644..74726596 [GRCh38]
Chr7:7q11.23
pathogenic
Single allele duplication Autism [RCV000754334] Chr7:73323103..74726596 [GRCh38]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72653306-74134911)x1 copy number loss not provided [RCV000746792] Chr7:72653306..74134911 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:72743983-74145064)x3 copy number gain not provided [RCV000746795] Chr7:72743983..74145064 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72305671-74196360)x1 copy number loss not provided [RCV000746789] Chr7:72305671..74196360 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:72650106-74138603)x1 copy number loss not provided [RCV000746790] Chr7:72650106..74138603 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72650265-74138603)x1 copy number loss not provided [RCV000746791] Chr7:72650265..74138603 [GRCh37]
Chr7:7q11.23
pathogenic
NM_032408.4(BAZ1B):c.1023C>T (p.His341=) single nucleotide variant not provided [RCV000898390] Chr7:73478438 [GRCh38]
Chr7:72892768 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.4428C>T (p.Ser1476=) single nucleotide variant not provided [RCV000929523] Chr7:73442220 [GRCh38]
Chr7:72856550 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.3581-6C>T single nucleotide variant not provided [RCV000949935] Chr7:73449695 [GRCh38]
Chr7:72864025 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.2760A>G (p.Pro920=) single nucleotide variant not provided [RCV000926960] Chr7:73469623 [GRCh38]
Chr7:72883953 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.12C>T (p.Leu4=) single nucleotide variant not provided [RCV000898068] Chr7:73521922 [GRCh38]
Chr7:72936252 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.3327C>T (p.Leu1109=) single nucleotide variant not provided [RCV000905293] Chr7:73459641 [GRCh38]
Chr7:72873971 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.4344A>G (p.Pro1448=) single nucleotide variant not provided [RCV000970706] Chr7:73442304 [GRCh38]
Chr7:72856634 [GRCh37]
Chr7:7q11.23
benign
NM_032408.4(BAZ1B):c.506T>C (p.Ile169Thr) single nucleotide variant not provided [RCV000906582] Chr7:73498562 [GRCh38]
Chr7:72912892 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.1274A>G (p.Lys425Arg) single nucleotide variant not provided [RCV000899039] Chr7:73478187 [GRCh38]
Chr7:72892517 [GRCh37]
Chr7:7q11.23
likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:72721449-73959106) copy number loss Williams syndrome [RCV000767559] Chr7:72721449..73959106 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72700996-74142190) copy number loss Williams syndrome [RCV000767639] Chr7:72700996..74142190 [GRCh37]
Chr7:7q11.23
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787466] Chr7:72726590..74142329 [GRCh37]
Chr7:7q11.23
pathogenic
NM_032408.4(BAZ1B):c.27C>G (p.Pro9=) single nucleotide variant not provided [RCV000940170] Chr7:73521907 [GRCh38]
Chr7:72936237 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.4302G>A (p.Gln1434=) single nucleotide variant not provided [RCV000879742] Chr7:73442346 [GRCh38]
Chr7:72856676 [GRCh37]
Chr7:7q11.23
benign
NM_032408.4(BAZ1B):c.2223G>A (p.Thr741=) single nucleotide variant not provided [RCV000969036] Chr7:73477238 [GRCh38]
Chr7:72891568 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7q11.23(chr7:72772522-74133319) copy number loss Williams syndrome [RCV000767640] Chr7:72772522..74133319 [GRCh37]
Chr7:7q11.23
pathogenic
NM_032408.4(BAZ1B):c.1554G>A (p.Leu518=) single nucleotide variant not provided [RCV000939513] Chr7:73477907 [GRCh38]
Chr7:72892237 [GRCh37]
Chr7:7q11.23
likely benign
GRCh37/hg19 7q11.23(chr7:72744494-74339044) copy number loss Williams syndrome [RCV000767637] Chr7:72744494..74339044 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72744494-76038818) copy number loss Williams syndrome [RCV000767638] Chr7:72744494..76038818 [GRCh37]
Chr7:7q11.23
pathogenic
Single allele deletion not provided [RCV000768460] Chr7:72682338..74141250 [GRCh37]
Chr7:7q11.23
likely pathogenic
NM_032408.4(BAZ1B):c.885A>G (p.Pro295=) single nucleotide variant not provided [RCV000976749] Chr7:73489200 [GRCh38]
Chr7:72903530 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.3993G>A (p.Val1331=) single nucleotide variant not provided [RCV000898468] Chr7:73442826 [GRCh38]
Chr7:72857156 [GRCh37]
Chr7:7q11.23
likely benign
Single allele duplication Neurodevelopmental disorder [RCV000787457] Chr7:72364526..73780265 [GRCh37]
Chr7:7q11.23
likely pathogenic
NM_032408.4(BAZ1B):c.1848C>T (p.Phe616=) single nucleotide variant not provided [RCV000893787] Chr7:73477613 [GRCh38]
Chr7:72891943 [GRCh37]
Chr7:7q11.23
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787465] Chr7:72699382..74142329 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x3 copy number gain See cases [RCV001194543] Chr7:72722981..74141840 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72700510-72874856)x3 copy number gain not provided [RCV000847348] Chr7:72700510..72874856 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_032408.4(BAZ1B):c.4065C>T (p.Ile1355=) single nucleotide variant not provided [RCV000892339] Chr7:73442754 [GRCh38]
Chr7:72857084 [GRCh37]
Chr7:7q11.23
likely benign
Single allele deletion Williams syndrome [RCV001172267] Chr7:72657228..74160300 [GRCh37]
Chr7:7q11.23
pathogenic
NM_032408.4(BAZ1B):c.4019G>A (p.Arg1340Lys) single nucleotide variant not provided [RCV000887871] Chr7:73442800 [GRCh38]
Chr7:72857130 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.1992A>G (p.Gln664=) single nucleotide variant not provided [RCV000931821] Chr7:73477469 [GRCh38]
Chr7:72891799 [GRCh37]
Chr7:7q11.23
benign
NM_032408.4(BAZ1B):c.1908C>A (p.Ser636=) single nucleotide variant not provided [RCV000909371] Chr7:73477553 [GRCh38]
Chr7:72891883 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.1815G>A (p.Thr605=) single nucleotide variant not provided [RCV000976027] Chr7:73477646 [GRCh38]
Chr7:72891976 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.426A>G (p.Lys142=) single nucleotide variant not provided [RCV000897139] Chr7:73498642 [GRCh38]
Chr7:72912972 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.2815C>T (p.His939Tyr) single nucleotide variant not provided [RCV000880026] Chr7:73469568 [GRCh38]
Chr7:72883898 [GRCh37]
Chr7:7q11.23
benign
NM_032408.4(BAZ1B):c.3426A>G (p.Glu1142=) single nucleotide variant not provided [RCV000910815] Chr7:73459542 [GRCh38]
Chr7:72873872 [GRCh37]
Chr7:7q11.23
benign
NM_032408.4(BAZ1B):c.4293G>A (p.Lys1431=) single nucleotide variant not provided [RCV000888515] Chr7:73442355 [GRCh38]
Chr7:72856685 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.4094+7G>C single nucleotide variant not provided [RCV000920880] Chr7:73442718 [GRCh38]
Chr7:72857048 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.1944T>C (p.Phe648=) single nucleotide variant not provided [RCV000913190] Chr7:73477517 [GRCh38]
Chr7:72891847 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.2286G>C (p.Val762=) single nucleotide variant not provided [RCV000911959] Chr7:73477175 [GRCh38]
Chr7:72891505 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.3071+8G>A single nucleotide variant not provided [RCV000912358] Chr7:73465431 [GRCh38]
Chr7:72879761 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.3991-9T>G single nucleotide variant not provided [RCV000912943] Chr7:73442837 [GRCh38]
Chr7:72857167 [GRCh37]
Chr7:7q11.23
likely benign
NM_032408.4(BAZ1B):c.2202C>T (p.Thr734=) single nucleotide variant not provided [RCV000890733] Chr7:73477259 [GRCh38]
Chr7:72891589 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_032408.4(BAZ1B):c.1365G>T (p.Arg455=) single nucleotide variant not provided [RCV000890794] Chr7:73478096 [GRCh38]
Chr7:72892426 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1 copy number loss not provided [RCV001005967] Chr7:72621722..76007380 [GRCh37]
Chr7:7q11.23
pathogenic
NM_032408.4(BAZ1B):c.2160G>C (p.Glu720Asp) single nucleotide variant not provided [RCV001233150] Chr7:73477301 [GRCh38]
Chr7:72891631 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_032408.4(BAZ1B):c.48G>T (p.Leu16Phe) single nucleotide variant not provided [RCV001233151] Chr7:73521886 [GRCh38]
Chr7:72936216 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1 copy number loss not provided [RCV001258798] Chr7:72403117..76709600 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1 copy number loss not provided [RCV001260005] Chr7:68977230..73939510 [GRCh37]
Chr7:7q11.22-11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72589195-74225562) copy number loss Williams syndrome [RCV002280675] Chr7:72589195..74225562 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72659674-74164894)x3 copy number gain not provided [RCV001258797] Chr7:72659674..74164894 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310) copy number loss Williams syndrome [RCV001352633] Chr7:71847968..73391310 [GRCh37]
Chr7:7q11.22-11.23
likely pathogenic
NM_032408.4(BAZ1B):c.2037G>A (p.Ser679=) single nucleotide variant not provided [RCV001688244] Chr7:73477424 [GRCh38]
Chr7:72891754 [GRCh37]
Chr7:7q11.23
benign
Single allele deletion Hb SS disease [RCV002247733]|Williams syndrome [RCV002247734] Chr7:73304277..74727414 [GRCh38]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1 copy number loss See cases [RCV002285079] Chr7:72718277..74142190 [GRCh37]
Chr7:7q11.23
pathogenic
NM_032408.4(BAZ1B):c.760C>T (p.Arg254Ter) single nucleotide variant Williams syndrome [RCV001787313] Chr7:73489325 [GRCh38]
Chr7:72903655 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3 copy number gain Distal 7q11.23 microdeletion syndrome [RCV001801209] Chr7:72717345..74133310 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72645013-74142190) copy number loss Williams syndrome [RCV002280678] Chr7:72645013..74142190 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72700942-74142190) copy number loss Williams syndrome [RCV002280682] Chr7:72700942..74142190 [GRCh37]
Chr7:7q11.23
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:72921550-74145628) copy number loss Williams syndrome [RCV002280680] Chr7:72921550..74145628 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72700996-74142256) copy number loss Williams syndrome [RCV002280681] Chr7:72700996..74142256 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72700127-74142190) copy number loss Williams syndrome [RCV002280684] Chr7:72700127..74142190 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72766313-74042787)x3 copy number gain 7q11.23 microduplication syndrome [RCV002279739] Chr7:72766313..74042787 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72686958-74155067) copy number gain 7q11.23 microduplication syndrome [RCV002280765] Chr7:72686958..74155067 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74629034) copy number loss Williams syndrome [RCV002280676] Chr7:72589515..74629034 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141784) copy number loss Williams syndrome [RCV002280679] Chr7:72718123..74141784 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72701084-74142190) copy number loss Williams syndrome [RCV002280683] Chr7:72701084..74142190 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:961 AgrOrtholog
COSMIC BAZ1B COSMIC
Ensembl Genes ENSG00000009954 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000342434 ENTREZGENE
  ENSP00000342434.4 UniProtKB/Swiss-Prot
  ENSP00000385442 ENTREZGENE
  ENSP00000385442.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000339594 ENTREZGENE
  ENST00000339594.9 UniProtKB/Swiss-Prot
  ENST00000404251 ENTREZGENE
  ENST00000404251.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.920.10 UniProtKB/Swiss-Prot
  3.30.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000009954 GTEx
HGNC ID HGNC:961 ENTREZGENE
Human Proteome Map BAZ1B Human Proteome Map
InterPro BAZ1B_Bromo UniProtKB/Swiss-Prot
  Bromodomain UniProtKB/Swiss-Prot
  Bromodomain-like_sf UniProtKB/Swiss-Prot
  Bromodomain_CS UniProtKB/Swiss-Prot
  DDT_dom UniProtKB/Swiss-Prot
  WHIM1_dom UniProtKB/Swiss-Prot
  WHIM2_dom UniProtKB/Swiss-Prot
  WSTF_Acf1_Cbp146 UniProtKB/Swiss-Prot
  Zinc_finger_PHD-type_CS UniProtKB/Swiss-Prot
  Znf_FYVE_PHD UniProtKB/Swiss-Prot
  Znf_PHD UniProtKB/Swiss-Prot
  Znf_PHD-finger UniProtKB/Swiss-Prot
  Znf_RING UniProtKB/Swiss-Prot
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot
KEGG Report hsa:9031 UniProtKB/Swiss-Prot
NCBI Gene 9031 ENTREZGENE
OMIM 605681 OMIM
Pfam Bromodomain UniProtKB/Swiss-Prot
  PHD UniProtKB/Swiss-Prot
  WAC_Acf1_DNA_bd UniProtKB/Swiss-Prot
  WHIM1 UniProtKB/Swiss-Prot
  WSD UniProtKB/Swiss-Prot
PharmGKB PA25271 PharmGKB
PRINTS BROMODOMAIN UniProtKB/Swiss-Prot
PROSITE BROMODOMAIN_1 UniProtKB/Swiss-Prot
  BROMODOMAIN_2 UniProtKB/Swiss-Prot
  DDT UniProtKB/Swiss-Prot
  WAC UniProtKB/Swiss-Prot
  ZF_PHD_1 UniProtKB/Swiss-Prot
  ZF_PHD_2 UniProtKB/Swiss-Prot
SMART BROMO UniProtKB/Swiss-Prot
  DDT UniProtKB/Swiss-Prot
  PHD UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47370 UniProtKB/Swiss-Prot
  SSF57903 UniProtKB/Swiss-Prot
UniProt BAZ1B_HUMAN UniProtKB/Swiss-Prot
  Q86UJ6 ENTREZGENE
  Q9UIG0 ENTREZGENE
UniProt Secondary B9EGK3 UniProtKB/Swiss-Prot
  D3DXE9 UniProtKB/Swiss-Prot
  O95039 UniProtKB/Swiss-Prot
  O95247 UniProtKB/Swiss-Prot
  O95277 UniProtKB/Swiss-Prot
  Q6P1K4 UniProtKB/Swiss-Prot
  Q86UJ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 BAZ1B  bromodomain adjacent to zinc finger domain 1B    bromodomain adjacent to zinc finger domain, 1B  Symbol and/or name change 5135510 APPROVED
2011-08-17 BAZ1B  bromodomain adjacent to zinc finger domain, 1B  BAZ1B  bromodomain adjacent to zinc finger domain, 1B  Symbol and/or name change 5135510 APPROVED