BFAR (bifunctional apoptosis regulator) - Rat Genome Database

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Gene: BFAR (bifunctional apoptosis regulator) Homo sapiens
Analyze
Symbol: BFAR
Name: bifunctional apoptosis regulator
RGD ID: 1312438
HGNC Page HGNC
Description: Enables caspase binding activity; protein-macromolecule adaptor activity; and ubiquitin protein ligase activity. Involved in negative regulation of IRE1-mediated unfolded protein response; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Acts upstream of or within negative regulation of apoptotic process. Located in endoplasmic reticulum and membrane; INTERACTS WITH 2-methylcholine; arsenous acid; diarsenic trioxide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: BAR; bifunctional apoptosis inhibitor; RING finger protein 47; RNF47
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 Ensembl1614,632,931 - 14,669,236 (+)EnsemblGRCh38hg38GRCh38
GRCh381614,632,831 - 14,669,236 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371614,726,808 - 14,763,093 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361614,634,297 - 14,670,209 (+)NCBINCBI36hg18NCBI36
Build 341614,634,296 - 14,670,193NCBI
Celera1614,903,443 - 14,939,870 (+)NCBI
Cytogenetic Map16p13.12NCBI
HuRef1614,645,522 - 14,682,385 (+)NCBIHuRef
CHM1_11614,726,496 - 14,762,923 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Additional References at PubMed
PMID:10716992   PMID:12477932   PMID:14502241   PMID:15489334   PMID:18805781   PMID:19549727   PMID:19690564   PMID:20523265   PMID:21068390   PMID:21873635   PMID:22013210   PMID:22566094  
PMID:25737280   PMID:32296183   PMID:32614325   PMID:32694731   PMID:32814053  


Genomics

Comparative Map Data
BFAR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1614,632,931 - 14,669,236 (+)EnsemblGRCh38hg38GRCh38
GRCh381614,632,831 - 14,669,236 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371614,726,808 - 14,763,093 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361614,634,297 - 14,670,209 (+)NCBINCBI36hg18NCBI36
Build 341614,634,296 - 14,670,193NCBI
Celera1614,903,443 - 14,939,870 (+)NCBI
Cytogenetic Map16p13.12NCBI
HuRef1614,645,522 - 14,682,385 (+)NCBIHuRef
CHM1_11614,726,496 - 14,762,923 (+)NCBICHM1_1
Bfar
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391613,489,722 - 13,521,476 (+)NCBIGRCm39mm39
GRCm39 Ensembl1613,489,722 - 13,521,476 (+)Ensembl
GRCm39 Ensembl1613,489,793 - 13,496,252 (+)Ensembl
GRCm381613,671,858 - 13,703,612 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1613,671,858 - 13,703,612 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl1613,671,929 - 13,678,388 (+)EnsemblGRCm38mm10GRCm38
MGSCv371613,671,951 - 13,703,705 (+)NCBIGRCm37mm9NCBIm37
MGSCv361613,585,572 - 13,616,279 (+)NCBImm8
Celera1614,276,844 - 14,308,053 (+)NCBICelera
Cytogenetic Map16A1NCBI
Bfar
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2101,552,019 - 1,585,040 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl101,464,765 - 1,497,653 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0101,464,783 - 1,497,653 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.010361,895 - 394,582 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41049 - 13,315 (+)NCBIRGSC3.4rn4RGSC3.4
Celera10613,130 - 645,931 (+)NCBICelera
Cytogenetic Map10q11NCBI
Bfar
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554424,226,756 - 4,255,623 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554424,229,236 - 4,255,623 (-)NCBIChiLan1.0ChiLan1.0
BFAR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11614,980,618 - 15,018,310 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1614,980,615 - 15,018,310 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01613,558,912 - 13,597,023 (+)NCBIMhudiblu_PPA_v0panPan3
BFAR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1628,593,931 - 28,624,867 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl628,594,709 - 28,624,759 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha629,957,043 - 29,987,994 (-)NCBI
ROS_Cfam_1.0628,757,093 - 28,788,057 (-)NCBI
UMICH_Zoey_3.1628,560,108 - 28,591,059 (-)NCBI
UNSW_CanFamBas_1.0628,448,363 - 28,479,322 (-)NCBI
UU_Cfam_GSD_1.0628,855,713 - 28,886,664 (-)NCBI
Bfar
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344114,714,164 - 114,741,497 (+)NCBI
SpeTri2.0NW_0049365012,811,967 - 2,839,357 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BFAR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl328,573,393 - 28,612,218 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1328,572,789 - 28,612,659 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2329,685,082 - 29,696,890 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BFAR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1514,092,049 - 14,132,270 (+)NCBI
ChlSab1.1 Ensembl514,092,097 - 14,133,132 (+)Ensembl
Vero_WHO_p1.0NW_02366606815,918,502 - 15,961,414 (-)NCBI
Bfar
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247823,890,818 - 3,916,920 (-)NCBI

Position Markers
SHGC-61074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,738,149 - 14,738,305UniSTSGRCh37
Build 361614,645,650 - 14,645,806RGDNCBI36
Celera1614,914,924 - 14,915,080RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p13.12UniSTS
HuRef1614,657,004 - 14,657,160UniSTS
GeneMap99-GB4 RH Map1670.61UniSTS
NCBI RH Map16139.9UniSTS
RH48705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,762,251 - 14,762,379UniSTSGRCh37
Build 361614,669,752 - 14,669,880RGDNCBI36
Celera1614,939,028 - 14,939,156RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p13.12UniSTS
HuRef1614,681,543 - 14,681,671UniSTS
GeneMap99-GB4 RH Map16165.62UniSTS
D16S2565E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,762,891 - 14,762,986UniSTSGRCh37
Build 361614,670,392 - 14,670,487RGDNCBI36
Celera1614,939,668 - 14,939,763RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p13.12UniSTS
HuRef1614,682,183 - 14,682,278UniSTS
GeneMap99-GB4 RH Map16167.28UniSTS
STS-M78938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,761,301 - 14,761,388UniSTSGRCh37
Build 361614,668,802 - 14,668,889RGDNCBI36
Celera1614,938,078 - 14,938,165RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p13.12UniSTS
HuRef1614,680,593 - 14,680,680UniSTS
GeneMap99-GB4 RH Map16164.45UniSTS
NCBI RH Map16139.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3179
Count of miRNA genes:1007
Interacting mature miRNAs:1220
Transcripts:ENST00000261658, ENST00000426842, ENST00000562121, ENST00000562442, ENST00000562545, ENST00000563082, ENST00000563313, ENST00000563971, ENST00000564078, ENST00000565478, ENST00000566520, ENST00000566710, ENST00000570219
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 2413 2115 1501 400 1578 256 4272 1863 2059 385 1454 1610 160 1 1203 2735 6 2
Low 26 876 225 224 373 209 85 334 1675 34 6 3 15 1 53
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000261658   ⟹   ENSP00000261658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1614,632,951 - 14,669,236 (+)Ensembl
RefSeq Acc Id: ENST00000562121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1614,632,943 - 14,655,171 (+)Ensembl
RefSeq Acc Id: ENST00000562442   ⟹   ENSP00000481225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1614,632,932 - 14,650,589 (+)Ensembl
RefSeq Acc Id: ENST00000562545   ⟹   ENSP00000456869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1614,648,544 - 14,667,837 (+)Ensembl
RefSeq Acc Id: ENST00000563082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1614,667,320 - 14,669,232 (+)Ensembl
RefSeq Acc Id: ENST00000563313   ⟹   ENSP00000455428
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1614,632,974 - 14,665,019 (+)Ensembl
RefSeq Acc Id: ENST00000563971   ⟹   ENSP00000454476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1614,632,931 - 14,668,350 (+)Ensembl
RefSeq Acc Id: ENST00000564078   ⟹   ENSP00000454606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1614,661,964 - 14,665,181 (+)Ensembl
RefSeq Acc Id: ENST00000565478   ⟹   ENSP00000457165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1614,662,030 - 14,669,231 (+)Ensembl
RefSeq Acc Id: ENST00000566520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1614,632,931 - 14,650,556 (+)Ensembl
RefSeq Acc Id: ENST00000566710   ⟹   ENSP00000457561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1614,644,288 - 14,668,068 (+)Ensembl
RefSeq Acc Id: ENST00000570219   ⟹   ENSP00000456358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1614,633,163 - 14,648,452 (+)Ensembl
RefSeq Acc Id: NM_001330500   ⟹   NP_001317429
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381614,632,951 - 14,669,236 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016561   ⟹   NP_057645
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381614,632,951 - 14,669,236 (+)NCBI
GRCh371614,726,668 - 14,763,093 (+)RGD
Build 361614,634,297 - 14,670,209 (+)NCBI Archive
Celera1614,903,443 - 14,939,870 (+)RGD
HuRef1614,645,522 - 14,682,385 (+)RGD
CHM1_11614,726,496 - 14,762,923 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255350   ⟹   XP_005255407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381614,632,831 - 14,669,236 (+)NCBI
GRCh371614,726,668 - 14,763,093 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057645   ⟸   NM_016561
- Peptide Label: isoform 1
- UniProtKB: Q9NZS9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005255407   ⟸   XM_005255350
- Peptide Label: isoform X1
- UniProtKB: Q9NZS9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317429   ⟸   NM_001330500
- Peptide Label: isoform 2
- UniProtKB: H3BMP2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000456358   ⟸   ENST00000570219
RefSeq Acc Id: ENSP00000456869   ⟸   ENST00000562545
RefSeq Acc Id: ENSP00000481225   ⟸   ENST00000562442
RefSeq Acc Id: ENSP00000455428   ⟸   ENST00000563313
RefSeq Acc Id: ENSP00000454476   ⟸   ENST00000563971
RefSeq Acc Id: ENSP00000454606   ⟸   ENST00000564078
RefSeq Acc Id: ENSP00000261658   ⟸   ENST00000261658
RefSeq Acc Id: ENSP00000457165   ⟸   ENST00000565478
RefSeq Acc Id: ENSP00000457561   ⟸   ENST00000566710
Protein Domains
RING-type   SAM

Promoters
RGD ID:7231383
Promoter ID:EPDNEW_H21437
Type:initiation region
Name:BFAR_2
Description:bifunctional apoptosis regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21438  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381614,632,814 - 14,632,874EPDNEW
RGD ID:7231385
Promoter ID:EPDNEW_H21438
Type:initiation region
Name:BFAR_1
Description:bifunctional apoptosis regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21437  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381614,632,951 - 14,633,011EPDNEW
RGD ID:6792856
Promoter ID:HG_KWN:23088
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:OTTHUMT00000252088,   UC002DCM.1,   UC002DCN.1,   UC002DCP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361614,634,056 - 14,634,592 (+)MPROMDB
RGD ID:6852430
Promoter ID:EP74024
Type:initiation region
Name:HS_BFAR
Description:Bifunctional apoptosis regulator.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361614,634,298 - 14,634,358EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.12-13.11(chr16:14668382-16678513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051357]|See cases [RCV000051357] Chr16:14668382..16678513 [GRCh38]
Chr16:14762239..16772370 [GRCh37]
Chr16:14669740..16679871 [NCBI36]
Chr16:16p13.12-13.11
uncertain significance
GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3 copy number gain See cases [RCV000051353] Chr16:14609647..18765817 [GRCh38]
Chr16:14703504..18777139 [GRCh37]
Chr16:14611005..18684640 [NCBI36]
Chr16:16p13.12-12.3
uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3 copy number gain See cases [RCV000051354] Chr16:14639096..16431491 [GRCh38]
Chr16:14732953..16525348 [GRCh37]
Chr16:14640454..16432849 [NCBI36]
Chr16:16p13.12-13.11
uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668182-16493213)x3 copy number gain See cases [RCV000051355] Chr16:14668182..16493213 [GRCh38]
Chr16:14762039..16587070 [GRCh37]
Chr16:14669540..16494571 [NCBI36]
Chr16:16p13.12-13.11
uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668382-16100721)x3 copy number gain See cases [RCV000051356] Chr16:14668382..16100721 [GRCh38]
Chr16:14762239..16194578 [GRCh37]
Chr16:14669740..16102079 [NCBI36]
Chr16:16p13.12-13.11
uncertain significance
GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1 copy number loss See cases [RCV000052484] Chr16:11967831..15162888 [GRCh38]
Chr16:12061688..15256745 [GRCh37]
Chr16:11969189..15164246 [NCBI36]
Chr16:16p13.13-13.11
pathogenic
NM_016561.2(BFAR):c.120C>T (p.Ile40=) single nucleotide variant Malignant melanoma [RCV000070994] Chr16:14644466 [GRCh38]
Chr16:14738323 [GRCh37]
Chr16:14645824 [NCBI36]
Chr16:16p13.12
not provided
NM_016561.2(BFAR):c.793C>T (p.Pro265Ser) single nucleotide variant Malignant melanoma [RCV000070995] Chr16:14661901 [GRCh38]
Chr16:14755758 [GRCh37]
Chr16:14663259 [NCBI36]
Chr16:16p13.12
not provided
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2
pathogenic
GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1 copy number loss See cases [RCV000137596] Chr16:11952467..15186199 [GRCh38]
Chr16:12046324..15280056 [GRCh37]
Chr16:11953825..15187557 [NCBI36]
Chr16:16p13.13-13.11
likely pathogenic
GRCh38/hg38 16p13.12(chr16:14140498-14686337)x3 copy number gain See cases [RCV000137490] Chr16:14140498..14686337 [GRCh38]
Chr16:14234355..14780194 [GRCh37]
Chr16:14141856..14687695 [NCBI36]
Chr16:16p13.12
likely benign
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Ductal breast carcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.12(chr16:14464480-14762298)x3 copy number gain not provided [RCV000659196] Chr16:14464480..14762298 [GRCh37]
Chr16:16p13.12
likely benign
GRCh37/hg19 16p13.13-13.12(chr16:12007434-14781381)x1 copy number loss not provided [RCV000683763] Chr16:12007434..14781381 [GRCh37]
Chr16:16p13.13-13.12
uncertain significance
GRCh37/hg19 16p13.12(chr16:14405427-14765202)x3 copy number gain not provided [RCV000683766] Chr16:14405427..14765202 [GRCh37]
Chr16:16p13.12
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14759219-16419494)x1 copy number loss not provided [RCV000739062] Chr16:14759219..16419494 [GRCh37]
Chr16:16p13.12-13.11
likely benign
NM_016561.3(BFAR):c.734G>A (p.Arg245His) single nucleotide variant not provided [RCV000957375] Chr16:14655161 [GRCh38]
Chr16:14749018 [GRCh37]
Chr16:16p13.12
benign
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17613 AgrOrtholog
COSMIC BFAR COSMIC
Ensembl Genes ENSG00000103429 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000275618 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261658 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454476 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000454606 UniProtKB/TrEMBL
  ENSP00000455428 UniProtKB/TrEMBL
  ENSP00000456358 UniProtKB/TrEMBL
  ENSP00000456869 UniProtKB/TrEMBL
  ENSP00000457165 UniProtKB/TrEMBL
  ENSP00000457561 UniProtKB/TrEMBL
  ENSP00000478190 UniProtKB/Swiss-Prot
  ENSP00000481225 UniProtKB/TrEMBL
  ENSP00000487878 UniProtKB/TrEMBL
  ENSP00000487995 UniProtKB/TrEMBL
  ENSP00000488076 UniProtKB/TrEMBL
  ENSP00000488143 UniProtKB/TrEMBL
  ENSP00000488487 UniProtKB/TrEMBL
  ENSP00000488492 UniProtKB/TrEMBL
  ENSP00000488540 UniProtKB/TrEMBL
  ENSP00000488837 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261658 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000562442 UniProtKB/TrEMBL
  ENST00000562545 UniProtKB/TrEMBL
  ENST00000563313 UniProtKB/TrEMBL
  ENST00000563971 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000564078 UniProtKB/TrEMBL
  ENST00000565478 UniProtKB/TrEMBL
  ENST00000566710 UniProtKB/TrEMBL
  ENST00000570219 UniProtKB/TrEMBL
  ENST00000619034 UniProtKB/Swiss-Prot
  ENST00000631407 UniProtKB/TrEMBL
  ENST00000631651 UniProtKB/TrEMBL
  ENST00000632031 UniProtKB/TrEMBL
  ENST00000632391 UniProtKB/TrEMBL
  ENST00000632966 UniProtKB/TrEMBL
  ENST00000633638 UniProtKB/TrEMBL
  ENST00000634083 UniProtKB/TrEMBL
  ENST00000634109 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103429 GTEx
  ENSG00000275618 GTEx
HGNC ID HGNC:17613 ENTREZGENE
Human Proteome Map BFAR Human Proteome Map
InterPro SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51283 UniProtKB/Swiss-Prot
NCBI Gene 51283 ENTREZGENE
Pfam SAM_1 UniProtKB/Swiss-Prot
PharmGKB PA38460 PharmGKB
PROSITE SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WXR3_HUMAN UniProtKB/TrEMBL
  BFAR_HUMAN UniProtKB/Swiss-Prot
  H3BMP2 ENTREZGENE, UniProtKB/TrEMBL
  H3BMY8_HUMAN UniProtKB/TrEMBL
  H3BPQ8_HUMAN UniProtKB/TrEMBL
  H3BRQ5_HUMAN UniProtKB/TrEMBL
  H3BSU2_HUMAN UniProtKB/TrEMBL
  H3BTG6_HUMAN UniProtKB/TrEMBL
  H3BUB3_HUMAN UniProtKB/TrEMBL
  Q9NZS9 ENTREZGENE
UniProt Secondary A8K4Z9 UniProtKB/Swiss-Prot
  B4DUT0 UniProtKB/Swiss-Prot
  D3DUG8 UniProtKB/Swiss-Prot