BAALC (BAALC binder of MAP3K1 and KLF4) - Rat Genome Database

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Gene: BAALC (BAALC binder of MAP3K1 and KLF4) Homo sapiens
Analyze
Symbol: BAALC
Name: BAALC binder of MAP3K1 and KLF4
RGD ID: 736795
HGNC Page HGNC
Description: Localizes to cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BAALC, MAP3K1 and KLF4 binding; BAALC, MEKK1 and KLF4 binding; brain and acute leukemia cytoplasmic protein; brain and acute leukemia, cytoplasmic; FLJ12015
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8103,140,713 - 103,230,305 (+)EnsemblGRCh38hg38GRCh38
GRCh388103,140,725 - 103,230,305 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378104,152,953 - 104,242,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368104,222,097 - 104,311,709 (+)NCBINCBI36hg18NCBI36
Build 348104,222,118 - 104,311,708NCBI
Celera8100,339,760 - 100,429,361 (+)NCBI
Cytogenetic Map8q22.3NCBI
HuRef899,353,733 - 99,443,786 (+)NCBIHuRef
CHM1_18104,193,956 - 104,283,538 (+)NCBICHM1_1
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 Function

References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:15604894   PMID:15749074   PMID:16189514   PMID:17646667   PMID:18029348   PMID:18378853   PMID:18671757   PMID:18752846   PMID:19555438  
PMID:19943049   PMID:20065290   PMID:20306678   PMID:20495894   PMID:20535151   PMID:20841507   PMID:21835957   PMID:21873635   PMID:21967978   PMID:22197554   PMID:22488406   PMID:22493267  
PMID:22529287   PMID:23275563   PMID:23287429   PMID:23647058   PMID:23672350   PMID:23760853   PMID:23865362   PMID:24736457   PMID:24855032   PMID:25428390   PMID:25640309   PMID:26012361  
PMID:26050649   PMID:26430723   PMID:26625814   PMID:27372260   PMID:27662611   PMID:28298427   PMID:29696374   PMID:32129446   PMID:32296183   PMID:32811810   PMID:32862286   PMID:33453340  


Genomics

Comparative Map Data
BAALC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8103,140,713 - 103,230,305 (+)EnsemblGRCh38hg38GRCh38
GRCh388103,140,725 - 103,230,305 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378104,152,953 - 104,242,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368104,222,097 - 104,311,709 (+)NCBINCBI36hg18NCBI36
Build 348104,222,118 - 104,311,708NCBI
Celera8100,339,760 - 100,429,361 (+)NCBI
Cytogenetic Map8q22.3NCBI
HuRef899,353,733 - 99,443,786 (+)NCBIHuRef
CHM1_18104,193,956 - 104,283,538 (+)NCBICHM1_1
Baalc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391538,739,763 - 38,814,659 (+)NCBIGRCm39mm39
GRCm39 Ensembl1538,740,784 - 38,816,307 (+)Ensembl
GRCm381538,933,909 - 38,951,264 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1538,933,144 - 38,952,912 (+)EnsemblGRCm38mm10GRCm38
MGSCv371538,765,455 - 38,782,810 (+)NCBIGRCm37mm9NCBIm37
MGSCv361538,763,983 - 38,781,331 (+)NCBImm8
Celera1539,362,620 - 39,436,514 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1515.18NCBI
Baalc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2769,918,998 - 69,992,289 (+)NCBI
Rnor_6.0 Ensembl777,763,512 - 77,837,453 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0777,761,056 - 77,836,534 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0778,415,169 - 78,491,960 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4774,426,267 - 74,499,551 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1774,446,996 - 74,520,280 (+)NCBI
Celera766,975,936 - 67,049,177 (+)NCBICelera
Cytogenetic Map7q22NCBI
Baalc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541727,426,764 - 27,436,620 (+)NCBIChiLan1.0ChiLan1.0
BAALC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18101,950,095 - 102,041,388 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8101,950,095 - 102,041,388 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0899,796,292 - 99,942,112 (+)NCBIMhudiblu_PPA_v0panPan3
BAALC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1134,602,688 - 4,684,138 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl134,603,020 - 4,682,189 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha134,580,567 - 4,687,615 (+)NCBI
ROS_Cfam_1.0134,740,979 - 4,848,073 (+)NCBI
UMICH_Zoey_3.1134,581,689 - 4,688,798 (+)NCBI
UNSW_CanFamBas_1.0134,699,133 - 4,806,795 (+)NCBI
UU_Cfam_GSD_1.0134,712,208 - 4,819,394 (+)NCBI
Baalc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530333,080,068 - 33,154,084 (-)NCBI
SpeTri2.0NW_00493647040,506,596 - 40,590,537 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BAALC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl433,893,337 - 33,983,942 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1433,894,240 - 33,983,920 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2436,745,234 - 36,837,274 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BAALC
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1898,001,547 - 98,082,381 (+)NCBI
ChlSab1.1 Ensembl898,001,432 - 98,082,132 (+)Ensembl
Vero_WHO_p1.0NW_02366603942,517,088 - 42,599,377 (-)NCBI
Baalc
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476319,801,144 - 19,838,313 (+)NCBI

Position Markers
RH98648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,242,247 - 104,242,378UniSTSGRCh37
Build 368104,311,423 - 104,311,554RGDNCBI36
Celera8100,429,075 - 100,429,206RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,443,500 - 99,443,631UniSTS
GeneMap99-GB4 RH Map8440.12UniSTS
RH103102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,241,267 - 104,241,387UniSTSGRCh37
Build 368104,310,443 - 104,310,563RGDNCBI36
Celera8100,428,095 - 100,428,215RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,442,520 - 99,442,640UniSTS
GeneMap99-GB4 RH Map8440.12UniSTS
RH120941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,184,177 - 104,184,481UniSTSGRCh37
Build 368104,253,353 - 104,253,657RGDNCBI36
Celera8100,371,011 - 100,371,315RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,385,435 - 99,385,739UniSTS
TNG Radiation Hybrid Map850995.0UniSTS
G62950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,196,887 - 104,197,195UniSTSGRCh37
Build 368104,266,063 - 104,266,371RGDNCBI36
Celera8100,383,718 - 100,384,026RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,398,142 - 99,398,450UniSTS
TNG Radiation Hybrid Map851005.0UniSTS
D8S1692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,241,450 - 104,241,548UniSTSGRCh37
Build 368104,310,626 - 104,310,724RGDNCBI36
Celera8100,428,278 - 100,428,376RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,442,703 - 99,442,801UniSTS
SHGC-147735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,183,561 - 104,183,836UniSTSGRCh37
Build 368104,252,737 - 104,253,012RGDNCBI36
Celera8100,370,396 - 100,370,670RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,384,804 - 99,385,094UniSTS
TNG Radiation Hybrid Map850998.0UniSTS
D8S1977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,242,298 - 104,242,500UniSTSGRCh37
Build 368104,311,474 - 104,311,676RGDNCBI36
Celera8100,429,126 - 100,429,328RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,443,551 - 99,443,753UniSTS
Whitehead-YAC Contig Map8 UniSTS
STS-AA018831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,212,278 - 104,212,523UniSTSGRCh37
Build 368104,281,454 - 104,281,699RGDNCBI36
Celera8100,399,110 - 100,399,355RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,413,533 - 99,413,778UniSTS
GeneMap99-GB4 RH Map8436.24UniSTS
D8S1390E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,242,301 - 104,242,400UniSTSGRCh37
Build 368104,311,477 - 104,311,576RGDNCBI36
Celera8100,429,129 - 100,429,228RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,443,554 - 99,443,653UniSTS
GeneMap99-GB4 RH Map8440.12UniSTS
NCBI RH Map8982.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2866
Count of miRNA genes:959
Interacting mature miRNAs:1136
Transcripts:ENST00000297574, ENST00000306391, ENST00000309982, ENST00000330955, ENST00000438105, ENST00000517863, ENST00000519507, ENST00000521926, ENST00000523754
Prediction methods:Microtar, 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.


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 12 5 432 7 161 7 123 10 3070 36 42 249 2 1 193 21 1
Low 2209 1872 1131 454 586 309 3715 1750 650 304 1215 1207 147 1011 2291 3 2
Below cutoff 128 1101 143 150 896 132 512 430 10 58 164 72 25 476

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001024372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF363578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF371319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF371323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI548687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI602606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297574   ⟹   ENSP00000297574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,140,759 - 103,228,218 (+)Ensembl
RefSeq Acc Id: ENST00000306391   ⟹   ENSP00000302559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,140,898 - 103,183,449 (+)Ensembl
RefSeq Acc Id: ENST00000309982   ⟹   ENSP00000312457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,140,725 - 103,230,305 (+)Ensembl
RefSeq Acc Id: ENST00000330955   ⟹   ENSP00000331579
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,140,898 - 103,198,160 (+)Ensembl
RefSeq Acc Id: ENST00000438105   ⟹   ENSP00000395024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,140,713 - 103,230,305 (+)Ensembl
RefSeq Acc Id: ENST00000517863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,208,192 - 103,215,003 (+)Ensembl
RefSeq Acc Id: ENST00000519507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,153,139 - 103,228,132 (+)Ensembl
RefSeq Acc Id: ENST00000521926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,213,411 - 103,228,166 (+)Ensembl
RefSeq Acc Id: ENST00000523754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,213,331 - 103,229,145 (+)Ensembl
RefSeq Acc Id: NM_001024372   ⟹   NP_001019543
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,140,725 - 103,230,305 (+)NCBI
GRCh378104,152,921 - 104,242,533 (+)ENTREZGENE
Build 368104,222,097 - 104,311,709 (+)NCBI Archive
HuRef899,353,733 - 99,443,786 (+)ENTREZGENE
CHM1_18104,193,956 - 104,283,538 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364874   ⟹   NP_001351803
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,140,725 - 103,230,305 (+)NCBI
RefSeq Acc Id: NM_024812   ⟹   NP_079088
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,140,725 - 103,230,305 (+)NCBI
GRCh378104,152,921 - 104,242,533 (+)ENTREZGENE
Build 368104,222,097 - 104,311,709 (+)NCBI Archive
HuRef899,353,733 - 99,443,786 (+)ENTREZGENE
CHM1_18104,193,956 - 104,283,538 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745601
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,140,748 - 103,229,350 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079088   ⟸   NM_024812
- Peptide Label: isoform 1
- UniProtKB: Q8WXS3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001019543   ⟸   NM_001024372
- Peptide Label: isoform 2
- UniProtKB: Q8WXS3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001351803   ⟸   NM_001364874
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000331579   ⟸   ENST00000330955
RefSeq Acc Id: ENSP00000395024   ⟸   ENST00000438105
RefSeq Acc Id: ENSP00000302559   ⟸   ENST00000306391
RefSeq Acc Id: ENSP00000312457   ⟸   ENST00000309982
RefSeq Acc Id: ENSP00000297574   ⟸   ENST00000297574

Promoters
RGD ID:7213941
Promoter ID:EPDNEW_H12715
Type:initiation region
Name:BAALC_1
Description:brain and acute leukemia, cytoplasmic
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
GRCh388103,140,748 - 103,140,808EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3 copy number gain See cases [RCV000050760] Chr8:101962098..103357772 [GRCh38]
Chr8:102974326..104370000 [GRCh37]
Chr8:103043502..104439176 [NCBI36]
Chr8:8q22.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1 copy number loss See cases [RCV000136812] Chr8:101199826..105802098 [GRCh38]
Chr8:102212054..106814326 [GRCh37]
Chr8:102281230..106883502 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:102584167-104236192)x1 copy number loss not provided [RCV000683013] Chr8:102584167..104236192 [GRCh37]
Chr8:8q22.3
likely pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8q22.3(chr8:104221791-104770147)x3 copy number gain not provided [RCV000682982] Chr8:104221791..104770147 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:103950997-104487840)x3 copy number gain not provided [RCV000747746] Chr8:103950997..104487840 [GRCh37]
Chr8:8q22.3
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14333 AgrOrtholog
COSMIC BAALC COSMIC
Ensembl Genes ENSG00000164929 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000297574 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000302559 UniProtKB/Swiss-Prot
  ENSP00000312457 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000331579 UniProtKB/Swiss-Prot
  ENSP00000395024 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297574 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000306391 UniProtKB/Swiss-Prot
  ENST00000309982 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000330955 UniProtKB/Swiss-Prot
  ENST00000438105 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000164929 GTEx
HGNC ID HGNC:14333 ENTREZGENE
Human Proteome Map BAALC Human Proteome Map
InterPro BAALC UniProtKB/Swiss-Prot
KEGG Report hsa:79870 UniProtKB/Swiss-Prot
NCBI Gene 79870 ENTREZGENE
OMIM 606602 OMIM
PANTHER PTHR14731 UniProtKB/Swiss-Prot
Pfam BAALC_N UniProtKB/Swiss-Prot
PharmGKB PA25230 PharmGKB
UniProt BAALC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q8WTP6 UniProtKB/Swiss-Prot
  Q8WXS0 UniProtKB/Swiss-Prot
  Q8WXS1 UniProtKB/Swiss-Prot
  Q8WXS2 UniProtKB/Swiss-Prot
  Q9HA93 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 BAALC  BAALC binder of MAP3K1 and KLF4    BAALC, MAP3K1 and KLF4 binding  Symbol and/or name change 5135510 APPROVED
2017-05-16 BAALC  BAALC, MAP3K1 and KLF4 binding    brain and acute leukemia, cytoplasmic  Symbol and/or name change 5135510 APPROVED
2011-08-17 BAALC  brain and acute leukemia, cytoplasmic  BAALC  brain and acute leukemia, cytoplasmic  Symbol and/or name change 5135510 APPROVED