BFAR (bifunctional apoptosis regulator) - Rat Genome Database

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Gene: BFAR (bifunctional apoptosis regulator) Homo sapiens
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Symbol: BFAR
Name: bifunctional apoptosis regulator
RGD ID: 1312438
HGNC Page HGNC:17613
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.
Type: protein-coding
RefSeq Status: VALIDATED
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381614,632,951 - 14,669,236 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1614,632,931 - 14,669,236 (+)EnsemblGRCh38hg38GRCh38
GRCh371614,726,808 - 14,763,093 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361614,634,297 - 14,670,209 (+)NCBINCBI36Build 36hg18NCBI36
Build 341614,634,296 - 14,670,193NCBI
Celera1614,903,443 - 14,939,870 (+)NCBICelera
Cytogenetic Map16p13.12NCBI
HuRef1614,645,522 - 14,682,385 (+)NCBIHuRef
CHM1_11614,726,496 - 14,762,923 (+)NCBICHM1_1
T2T-CHM13v2.01614,670,491 - 14,706,771 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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   PMID:33914044   PMID:33961781   PMID:34175335   PMID:35559673  


Genomics

Comparative Map Data
BFAR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381614,632,951 - 14,669,236 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1614,632,931 - 14,669,236 (+)EnsemblGRCh38hg38GRCh38
GRCh371614,726,808 - 14,763,093 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361614,634,297 - 14,670,209 (+)NCBINCBI36Build 36hg18NCBI36
Build 341614,634,296 - 14,670,193NCBI
Celera1614,903,443 - 14,939,870 (+)NCBICelera
Cytogenetic Map16p13.12NCBI
HuRef1614,645,522 - 14,682,385 (+)NCBIHuRef
CHM1_11614,726,496 - 14,762,923 (+)NCBICHM1_1
T2T-CHM13v2.01614,670,491 - 14,706,771 (+)NCBIT2T-CHM13v2.0
Bfar
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391613,489,722 - 13,521,476 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1613,489,722 - 13,521,476 (+)EnsemblGRCm39 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 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361613,585,572 - 13,616,279 (+)NCBIMGSCv36mm8
Celera1614,276,844 - 14,308,053 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map169.45NCBI
Bfar
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8102,059,189 - 2,092,207 (+)NCBIGRCr8
mRatBN7.2101,552,019 - 1,585,040 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl101,552,072 - 1,585,038 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx106,248,898 - 6,281,870 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01034,283,970 - 34,316,927 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0101,565,910 - 1,599,270 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0101,464,783 - 1,497,653 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl101,464,765 - 1,497,653 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010361,895 - 394,582 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41049 - 13,315 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v21815,167,173 - 15,205,284 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11618,950,045 - 18,988,139 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01613,558,912 - 13,597,023 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11614,980,618 - 15,018,310 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1614,980,615 - 15,018,310 (+)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0628,757,093 - 28,788,057 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl628,757,095 - 28,787,932 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1628,560,108 - 28,591,059 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0628,448,363 - 28,479,322 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0628,855,713 - 28,886,664 (-)NCBIUU_Cfam_GSD_1.0
Bfar
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344114,714,164 - 114,741,497 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365012,811,907 - 2,841,258 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - 28,612,217 (-)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 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl514,092,097 - 14,133,132 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606815,918,502 - 15,961,414 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bfar
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247823,887,129 - 3,916,858 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247823,890,818 - 3,916,920 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BFAR
34 total Variants

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 Breast ductal adenocarcinoma [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 Breast ductal adenocarcinoma [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.391C>G (p.Pro131Ala) single nucleotide variant not specified [RCV004313058] Chr16:14648515 [GRCh38]
Chr16:14742372 [GRCh37]
Chr16:16p13.12
uncertain significance
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(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
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|likely pathogenic
GRCh37/hg19 16p13.12-12.3(chr16:14365745-17052798)x3 copy number gain not provided [RCV002473916] Chr16:14365745..17052798 [GRCh37]
Chr16:16p13.12-12.3
likely pathogenic
NM_016561.3(BFAR):c.1143G>T (p.Trp381Cys) single nucleotide variant not specified [RCV004136942] Chr16:14665054 [GRCh38]
Chr16:14758911 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.815T>C (p.Leu272Pro) single nucleotide variant not specified [RCV004168200] Chr16:14661923 [GRCh38]
Chr16:14755780 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.1010C>G (p.Ser337Cys) single nucleotide variant not specified [RCV004227501] Chr16:14664921 [GRCh38]
Chr16:14758778 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.628G>C (p.Val210Leu) single nucleotide variant not specified [RCV004122825] Chr16:14649963 [GRCh38]
Chr16:14743820 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.985T>C (p.Trp329Arg) single nucleotide variant not specified [RCV004175659] Chr16:14664896 [GRCh38]
Chr16:14758753 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.194C>T (p.Ser65Leu) single nucleotide variant not specified [RCV004127647] Chr16:14644540 [GRCh38]
Chr16:14738397 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.134C>T (p.Thr45Ile) single nucleotide variant not specified [RCV004120955] Chr16:14644480 [GRCh38]
Chr16:14738337 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.382C>T (p.Pro128Ser) single nucleotide variant not specified [RCV004160830] Chr16:14648506 [GRCh38]
Chr16:14742363 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.870C>G (p.Asp290Glu) single nucleotide variant not specified [RCV004072214] Chr16:14661978 [GRCh38]
Chr16:14755835 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.164G>A (p.Arg55His) single nucleotide variant not specified [RCV004097542] Chr16:14644510 [GRCh38]
Chr16:14738367 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.733C>T (p.Arg245Cys) single nucleotide variant not specified [RCV004118505] Chr16:14655160 [GRCh38]
Chr16:14749017 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.373G>C (p.Asp125His) single nucleotide variant not specified [RCV004167832] Chr16:14648497 [GRCh38]
Chr16:14742354 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.758C>A (p.Pro253His) single nucleotide variant not specified [RCV004276436] Chr16:14655185 [GRCh38]
Chr16:14749042 [GRCh37]
Chr16:16p13.12
uncertain significance
GRCh37/hg19 16p13.12-13.11(chr16:14643928-14725823)x1 copy number loss Dyskeratosis congenita, autosomal recessive 6 [RCV003228701] Chr16:14643928..14725823 [GRCh37]
Chr16:16p13.12-13.11
not provided
NM_016561.3(BFAR):c.70G>A (p.Gly24Ser) single nucleotide variant not specified [RCV004334348] Chr16:14644416 [GRCh38]
Chr16:14738273 [GRCh37]
Chr16:16p13.12
likely benign
NM_016561.3(BFAR):c.736G>A (p.Val246Ile) single nucleotide variant not specified [RCV004345737] Chr16:14655163 [GRCh38]
Chr16:14749020 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.776A>G (p.Glu259Gly) single nucleotide variant not specified [RCV004338070] Chr16:14655203 [GRCh38]
Chr16:14749060 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.1145C>T (p.Ser382Leu) single nucleotide variant not specified [RCV004355368] Chr16:14665056 [GRCh38]
Chr16:14758913 [GRCh37]
Chr16:16p13.12
uncertain significance
GRCh37/hg19 16p13.12(chr16:14423662-14777432)x3 copy number gain not provided [RCV003485097] Chr16:14423662..14777432 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.1327C>T (p.Arg443Trp) single nucleotide variant not specified [RCV004429055] Chr16:14667801 [GRCh38]
Chr16:14761658 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.297T>G (p.Ile99Met) single nucleotide variant not specified [RCV004429057] Chr16:14648421 [GRCh38]
Chr16:14742278 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.514G>C (p.Asp172His) single nucleotide variant not specified [RCV004429058] Chr16:14649849 [GRCh38]
Chr16:14743706 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.101G>A (p.Cys34Tyr) single nucleotide variant not specified [RCV004429054] Chr16:14644447 [GRCh38]
Chr16:14738304 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.758C>G (p.Pro253Arg) single nucleotide variant not specified [RCV004429059] Chr16:14655185 [GRCh38]
Chr16:14749042 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.295A>G (p.Ile99Val) single nucleotide variant not specified [RCV004429056] Chr16:14648419 [GRCh38]
Chr16:14742276 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.974C>T (p.Thr325Met) single nucleotide variant not specified [RCV004429060] Chr16:14664885 [GRCh38]
Chr16:14758742 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.26T>C (p.Val9Ala) single nucleotide variant not specified [RCV004600191] Chr16:14644372 [GRCh38]
Chr16:14738229 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.713C>T (p.Ala238Val) single nucleotide variant not specified [RCV004600190] Chr16:14655140 [GRCh38]
Chr16:14748997 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.410A>G (p.Asn137Ser) single nucleotide variant not specified [RCV004600189] Chr16:14648534 [GRCh38]
Chr16:14742391 [GRCh37]
Chr16:16p13.12
uncertain significance
NM_016561.3(BFAR):c.1218T>A (p.Phe406Leu) single nucleotide variant not specified [RCV004600192] Chr16:14667692 [GRCh38]
Chr16:14761549 [GRCh37]
Chr16:16p13.12
uncertain significance
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597304170GWAS1400244_Hmean corpuscular volume QTL GWAS1400244 (human)5e-09mean corpuscular volumemean corpuscular volume (CMO:0000038)161464643514646436Human
597053148GWAS1149222_Hadolescent idiopathic scoliosis QTL GWAS1149222 (human)6e-40adolescent idiopathic scoliosis161466687714666878Human
597026632GWAS1122706_Hbody mass index QTL GWAS1122706 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)161465940214659403Human
597270918GWAS1366992_Heducational attainment QTL GWAS1366992 (human)2e-12educational attainment161463753414637535Human

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001330500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF173003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI912683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU621058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000261658   ⟹   ENSP00000261658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1614,632,951 - 14,669,236 (+)Ensembl
Ensembl Acc Id: ENST00000562121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1614,632,943 - 14,655,171 (+)Ensembl
Ensembl Acc Id: ENST00000562442   ⟹   ENSP00000481225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1614,632,932 - 14,650,589 (+)Ensembl
Ensembl Acc Id: ENST00000562545   ⟹   ENSP00000456869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1614,648,544 - 14,667,837 (+)Ensembl
Ensembl Acc Id: ENST00000563082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1614,667,320 - 14,669,232 (+)Ensembl
Ensembl Acc Id: ENST00000563313   ⟹   ENSP00000455428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1614,632,974 - 14,665,019 (+)Ensembl
Ensembl Acc Id: ENST00000563971   ⟹   ENSP00000454476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1614,632,931 - 14,668,350 (+)Ensembl
Ensembl Acc Id: ENST00000564078   ⟹   ENSP00000454606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1614,661,964 - 14,665,181 (+)Ensembl
Ensembl Acc Id: ENST00000565478   ⟹   ENSP00000457165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1614,662,030 - 14,669,231 (+)Ensembl
Ensembl Acc Id: ENST00000566520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1614,632,931 - 14,650,556 (+)Ensembl
Ensembl Acc Id: ENST00000566710   ⟹   ENSP00000457561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1614,644,288 - 14,668,068 (+)Ensembl
Ensembl Acc Id: ENST00000570219   ⟹   ENSP00000456358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.01614,670,491 - 14,706,771 (+)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
T2T-CHM13v2.01614,670,491 - 14,706,771 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255350   ⟹   XP_005255407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381614,632,951 - 14,669,236 (+)NCBI
GRCh371614,726,668 - 14,763,093 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054380437   ⟹   XP_054236412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01614,670,491 - 14,706,771 (+)NCBI
RefSeq Acc Id: NP_057645   ⟸   NM_016561
- Peptide Label: isoform 1
- UniProtKB: Q9NZS9 (UniProtKB/Swiss-Prot),   B4DUT0 (UniProtKB/Swiss-Prot),   A8K4Z9 (UniProtKB/Swiss-Prot),   D3DUG8 (UniProtKB/Swiss-Prot),   B2R9R6 (UniProtKB/TrEMBL)
- 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:
Ensembl Acc Id: ENSP00000456358   ⟸   ENST00000570219
Ensembl Acc Id: ENSP00000456869   ⟸   ENST00000562545
Ensembl Acc Id: ENSP00000481225   ⟸   ENST00000562442
Ensembl Acc Id: ENSP00000455428   ⟸   ENST00000563313
Ensembl Acc Id: ENSP00000454476   ⟸   ENST00000563971
Ensembl Acc Id: ENSP00000454606   ⟸   ENST00000564078
Ensembl Acc Id: ENSP00000261658   ⟸   ENST00000261658
Ensembl Acc Id: ENSP00000457165   ⟸   ENST00000565478
Ensembl Acc Id: ENSP00000457561   ⟸   ENST00000566710
RefSeq Acc Id: XP_054236412   ⟸   XM_054380437
- Peptide Label: isoform X1
Protein Domains
RING-type   SAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NZS9-F1-model_v2 AlphaFold Q9NZS9 1-450 view protein structure

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

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 Transcript ENST00000261658 ENTREZGENE
  ENST00000261658.7 UniProtKB/Swiss-Prot
  ENST00000562442.5 UniProtKB/TrEMBL
  ENST00000562545.5 UniProtKB/TrEMBL
  ENST00000563313.5 UniProtKB/TrEMBL
  ENST00000563971 ENTREZGENE
  ENST00000563971.5 UniProtKB/TrEMBL
  ENST00000564078.1 UniProtKB/TrEMBL
  ENST00000565478.1 UniProtKB/TrEMBL
  ENST00000566710.1 UniProtKB/TrEMBL
  ENST00000570219.1 UniProtKB/TrEMBL
  ENST00000619034.2 UniProtKB/Swiss-Prot
  ENST00000631407.1 UniProtKB/TrEMBL
  ENST00000631651.1 UniProtKB/TrEMBL
  ENST00000632031.1 UniProtKB/TrEMBL
  ENST00000632391.1 UniProtKB/TrEMBL
  ENST00000632966.1 UniProtKB/TrEMBL
  ENST00000633638.1 UniProtKB/TrEMBL
  ENST00000634083.1 UniProtKB/TrEMBL
  ENST00000634109.1 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
OMIM 619516 OMIM
PANTHER BIFUNCTIONAL APOPTOSIS REGULATOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UNCHARACTERIZED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C3HC4_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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
RNAcentral URS0002617B76 RNACentral
  URS00026180BF RNACentral
SMART RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WXR3_HUMAN UniProtKB/TrEMBL
  A8K4Z9 ENTREZGENE
  B2R9R6 ENTREZGENE, UniProtKB/TrEMBL
  B4DUT0 ENTREZGENE
  BFAR_HUMAN UniProtKB/Swiss-Prot
  D3DUG8 ENTREZGENE
  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