BCAR1 (BCAR1 scaffold protein, Cas family member) - Rat Genome Database

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Gene: BCAR1 (BCAR1 scaffold protein, Cas family member) Homo sapiens
Analyze
Symbol: BCAR1
Name: BCAR1 scaffold protein, Cas family member
RGD ID: 734116
HGNC Page HGNC:971
Description: Enables protein kinase binding activity. Involved in several processes, including cell surface receptor signaling pathway; cellular response to hepatocyte growth factor stimulus; and endothelin receptor signaling pathway. Located in several cellular components, including focal adhesion; plasma membrane; and ruffle. Implicated in breast ductal carcinoma. Biomarker of breast cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: breast cancer anti-estrogen resistance 1; breast cancer anti-estrogen resistance protein 1; CAS; Cas scaffolding protein family member 1; CAS1; CASS1; Crk-associated substrate p130Cas; CRKAS; FLJ12176; FLJ45059; P130Cas; v-crk-associated tyrosine kinase substrate
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: BCAR1P1   BCAR1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381675,228,181 - 75,268,007 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1675,228,181 - 75,268,053 (-)EnsemblGRCh38hg38GRCh38
GRCh371675,262,079 - 75,301,905 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361673,820,429 - 73,843,004 (-)NCBINCBI36Build 36hg18NCBI36
Build 341673,820,429 - 73,843,004NCBI
Celera1659,556,476 - 59,596,268 (-)NCBICelera
Cytogenetic Map16q23.1NCBI
HuRef1661,013,718 - 61,052,474 (-)NCBIHuRef
CHM1_11676,675,047 - 76,714,069 (-)NCBICHM1_1
T2T-CHM13v2.01681,274,930 - 81,314,755 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3,3',4,4',5,5'-Heptachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
atropine  (EXP)
azathioprine  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
blebbistatin  (EXP)
butan-1-ol  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
celecoxib  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clozapine  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cyproconazole  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
genistein  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
lovastatin  (ISO)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
mevalonic acid  (ISO)
ML-7  (EXP)
N-Vinyl-2-pyrrolidone  (ISO)
nickel sulfate  (ISO)
nimesulide  (ISO)
nitric oxide  (ISO)
oxotremorine M  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenethyl caffeate  (EXP)
phenobarbital  (EXP,ISO)
phenylarsine oxide  (EXP)
phenylephrine  (ISO)
pirinixic acid  (EXP,ISO)
potassium chloride  (ISO)
quercetin  (EXP)
reactive oxygen species  (EXP)
retinyl acetate  (ISO)
sodium arsenate  (EXP)
sulindac sulfide  (EXP)
tamoxifen  (EXP)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
triticonazole  (ISO)
troglitazone  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (EXP)
urethane  (EXP)
valproic acid  (EXP)
wortmannin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
actin cytoskeleton  (IEA)
anchoring junction  (IEA)
axon  (IEA)
cell projection  (IEA)
cytoplasm  (IBA,IDA,IEA,ISS)
cytosol  (TAS)
focal adhesion  (IBA,IDA,IEA,ISS)
lamellipodium  (IEA)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA)
ruffle  (IDA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. The prognostic value of BCAR1 in patients with primary breast cancer. Dorssers LC, etal., Clin Cancer Res. 2004 Sep 15;10(18 Pt 1):6194-202.
2. Cardiovascular anomaly, impaired actin bundling and resistance to Src-induced transformation in mice lacking p130Cas. Honda H, etal., Nat Genet 1998 Aug;19(4):361-5.
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Immunohistochemical study of the BCAR1/p130Cas protein in non-malignant and malignant human breast tissue. van der Flier S, etal., Int J Biol Markers. 2001 Jul-Sep;16(3):172-8.
Additional References at PubMed
PMID:7479864   PMID:7780740   PMID:8070403   PMID:8413311   PMID:8631823   PMID:8649368   PMID:8649427   PMID:8668148   PMID:8683103   PMID:8700507   PMID:8810278   PMID:8887669  
PMID:8889548   PMID:8940134   PMID:8978305   PMID:8995252   PMID:8999909   PMID:9020138   PMID:9148935   PMID:9188452   PMID:9285683   PMID:9295052   PMID:9360968   PMID:9360983  
PMID:9366405   PMID:9407132   PMID:9418872   PMID:9425168   PMID:9472046   PMID:9498705   PMID:9581808   PMID:9621077   PMID:9697683   PMID:9748234   PMID:9748319   PMID:9759889  
PMID:9920935   PMID:9927060   PMID:10026197   PMID:10085298   PMID:10092204   PMID:10093970   PMID:10187783   PMID:10208419   PMID:10320483   PMID:10329689   PMID:10339567   PMID:10438950  
PMID:10464310   PMID:10487518   PMID:10502414   PMID:10542110   PMID:10587647   PMID:10639512   PMID:10639513   PMID:10675905   PMID:10692442   PMID:10712510   PMID:10739664   PMID:10747099  
PMID:10753828   PMID:10787408   PMID:10799562   PMID:10801330   PMID:10822386   PMID:10889023   PMID:11032817   PMID:11036077   PMID:11071869   PMID:11113628   PMID:11146654   PMID:11158326  
PMID:11181995   PMID:11278335   PMID:11278916   PMID:11369773   PMID:11432831   PMID:11493697   PMID:11514617   PMID:11577104   PMID:11593413   PMID:11607844   PMID:11779709   PMID:11782456  
PMID:11820787   PMID:11839772   PMID:12119061   PMID:12135674   PMID:12397603   PMID:12446789   PMID:12477932   PMID:12517963   PMID:12529399   PMID:12601080   PMID:12615911   PMID:12618476  
PMID:12714323   PMID:12738793   PMID:12799422   PMID:12819203   PMID:12893833   PMID:12972425   PMID:14657239   PMID:14688263   PMID:14702039   PMID:14744259   PMID:15020686   PMID:15121874  
PMID:15140944   PMID:15146197   PMID:15492270   PMID:15588985   PMID:15592455   PMID:15673687   PMID:15700267   PMID:15728191   PMID:15778465   PMID:15784259   PMID:15866871   PMID:15923424  
PMID:15951569   PMID:16020549   PMID:16040804   PMID:16099422   PMID:16105984   PMID:16169070   PMID:16212419   PMID:16245368   PMID:16267043   PMID:16344560   PMID:16413489   PMID:16440329  
PMID:16581250   PMID:16597701   PMID:16600665   PMID:16644720   PMID:16849545   PMID:16964243   PMID:17038317   PMID:17081983   PMID:17129785   PMID:17251438   PMID:17474147   PMID:17616674  
PMID:17979178   PMID:17982677   PMID:18078823   PMID:18095869   PMID:18164686   PMID:18321991   PMID:18477472   PMID:18722344   PMID:18725541   PMID:18835194   PMID:18842495   PMID:19029090  
PMID:19086031   PMID:19329671   PMID:19330798   PMID:19331827   PMID:19357231   PMID:19380743   PMID:19412734   PMID:19732724   PMID:19822523   PMID:19844255   PMID:19940159   PMID:20534451  
PMID:20688056   PMID:20961652   PMID:21034468   PMID:21047529   PMID:21245381   PMID:21291860   PMID:21306301   PMID:21630091   PMID:21765937   PMID:21855630   PMID:21873635   PMID:21937722  
PMID:21952639   PMID:21957230   PMID:22081014   PMID:22082156   PMID:22084245   PMID:22106368   PMID:22144090   PMID:22241677   PMID:22395610   PMID:22431919   PMID:22476538   PMID:22558353  
PMID:22711540   PMID:22863883   PMID:22892392   PMID:22974441   PMID:23042269   PMID:23098208   PMID:23152477   PMID:23239970   PMID:23277200   PMID:23287717   PMID:23345605   PMID:23457408  
PMID:23652204   PMID:23665963   PMID:23740246   PMID:23839042   PMID:23872147   PMID:23904007   PMID:24284072   PMID:24494199   PMID:24584939   PMID:24928898   PMID:24962474   PMID:25086665  
PMID:25253349   PMID:25727852   PMID:25805500   PMID:26276885   PMID:26496610   PMID:26716506   PMID:26867768   PMID:27068854   PMID:27293031   PMID:27400161   PMID:27609421   PMID:27669437  
PMID:27764233   PMID:27880917   PMID:28007913   PMID:28223315   PMID:28337997   PMID:28442738   PMID:28514442   PMID:28611215   PMID:28808245   PMID:28986522   PMID:29117863   PMID:29304771  
PMID:29395067   PMID:29540532   PMID:29735542   PMID:30188962   PMID:30422386   PMID:30531837   PMID:30639111   PMID:30745168   PMID:31413325   PMID:31586073   PMID:31741433   PMID:31980649  
PMID:32296183   PMID:32572027   PMID:33001583   PMID:33042270   PMID:33144694   PMID:33334252   PMID:33644029   PMID:33961781   PMID:34079125   PMID:34169835   PMID:34192548   PMID:34326687  
PMID:34709727   PMID:34830244   PMID:34922945   PMID:35031902   PMID:35044719   PMID:35271311   PMID:35831314   PMID:36114006   PMID:36215168   PMID:36375119   PMID:36400248   PMID:36574265  
PMID:36736316   PMID:36898370   PMID:36931259   PMID:37616343  


Genomics

Comparative Map Data
BCAR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381675,228,181 - 75,268,007 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1675,228,181 - 75,268,053 (-)EnsemblGRCh38hg38GRCh38
GRCh371675,262,079 - 75,301,905 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361673,820,429 - 73,843,004 (-)NCBINCBI36Build 36hg18NCBI36
Build 341673,820,429 - 73,843,004NCBI
Celera1659,556,476 - 59,596,268 (-)NCBICelera
Cytogenetic Map16q23.1NCBI
HuRef1661,013,718 - 61,052,474 (-)NCBIHuRef
CHM1_11676,675,047 - 76,714,069 (-)NCBICHM1_1
T2T-CHM13v2.01681,274,930 - 81,314,755 (-)NCBIT2T-CHM13v2.0
Bcar1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398112,437,106 - 112,470,481 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8112,437,106 - 112,470,441 (-)EnsemblGRCm39 Ensembl
GRCm388111,710,474 - 111,743,849 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8111,710,474 - 111,743,809 (-)EnsemblGRCm38mm10GRCm38
MGSCv378114,234,374 - 114,267,709 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368114,597,147 - 114,630,482 (-)NCBIMGSCv36mm8
Celera8115,938,849 - 115,972,131 (-)NCBICelera
Cytogenetic Map8E1NCBI
cM Map857.98NCBI
Bcar1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81956,588,500 - 56,623,190 (-)NCBIGRCr8
mRatBN7.21939,679,215 - 39,713,907 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1939,679,204 - 39,713,907 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1946,538,528 - 46,573,365 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01947,191,851 - 47,226,683 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01949,436,088 - 49,470,662 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01943,932,543 - 43,967,452 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1943,932,554 - 43,955,783 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01954,739,915 - 54,774,486 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41941,646,190 - 41,669,234 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11941,651,070 - 41,674,115 (-)NCBI
Celera1939,039,406 - 39,062,496 (-)NCBICelera
Cytogenetic Map19q12NCBI
Bcar1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554842,227,337 - 2,260,565 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554842,223,306 - 2,258,444 (+)NCBIChiLan1.0ChiLan1.0
BCAR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21884,947,203 - 84,987,033 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11690,869,485 - 90,909,393 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01655,798,578 - 55,838,448 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11675,149,280 - 75,186,883 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1675,150,122 - 75,188,775 (-)Ensemblpanpan1.1panPan2
BCAR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1575,463,906 - 75,499,557 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl575,463,926 - 75,512,476 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha575,439,949 - 75,476,374 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0575,819,916 - 75,856,356 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl575,820,630 - 75,856,356 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1575,712,186 - 75,748,588 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0575,547,221 - 75,583,635 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0576,038,420 - 76,074,849 (+)NCBIUU_Cfam_GSD_1.0
Bcar1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934935,556,294 - 35,594,421 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647523,992,193 - 24,033,031 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647523,994,130 - 24,032,829 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCAR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl612,367,758 - 12,404,818 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1612,369,332 - 12,404,822 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2612,225,439 - 12,247,561 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BCAR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1560,709,409 - 60,749,071 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl560,707,006 - 60,732,882 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604715,305,423 - 15,350,551 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bcar1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474611,660,426 - 11,695,988 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474611,660,859 - 11,695,991 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BCAR1
86 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1 copy number loss See cases [RCV000053356] Chr16:69918076..76723348 [GRCh38]
Chr16:69951979..76757245 [GRCh37]
Chr16:68509480..75314746 [NCBI36]
Chr16:16q22.1-23.1		 pathogenic
GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1 copy number loss See cases [RCV000053357] Chr16:73049467..82576326 [GRCh38]
Chr16:73083366..82609931 [GRCh37]
Chr16:71640867..81167432 [NCBI36]
Chr16:16q22.3-23.3		 pathogenic
GRCh38/hg38 16q23.1(chr16:75163906-78064640)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]|See cases [RCV000053358] Chr16:75163906..78064640 [GRCh38]
Chr16:75197804..78098537 [GRCh37]
Chr16:73755305..76656038 [NCBI36]
Chr16:16q23.1		 pathogenic
GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3 copy number gain See cases [RCV000053868] Chr16:73917167..75319927 [GRCh38]
Chr16:73951066..75353825 [GRCh37]
Chr16:72508567..73911326 [NCBI36]
Chr16:16q22.3-23.1		 uncertain significance
GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3 copy number gain See cases [RCV000053893] Chr16:74658508..75378014 [GRCh38]
Chr16:74692406..75411912 [GRCh37]
Chr16:73249907..73969413 [NCBI36]
Chr16:16q23.1		 uncertain significance
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1		 pathogenic
GRCh38/hg38 16q23.1(chr16:74881191-75310294)x1 copy number loss See cases [RCV000135363] Chr16:74881191..75310294 [GRCh38]
Chr16:74915089..75344192 [GRCh37]
Chr16:73472590..73901693 [NCBI36]
Chr16:16q23.1		 uncertain significance
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3 copy number gain See cases [RCV000139130] Chr16:74811982..75698467 [GRCh38]
Chr16:74845880..75732365 [GRCh37]
Chr16:73403381..74289866 [NCBI36]
Chr16:16q23.1		 uncertain significance
GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3 copy number gain See cases [RCV000141922] Chr16:74688486..75377736 [GRCh38]
Chr16:74722384..75411634 [GRCh37]
Chr16:73279885..73969135 [NCBI36]
Chr16:16q23.1		 uncertain significance
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3 copy number gain See cases [RCV000142038] Chr16:69053457..83274681 [GRCh38]
Chr16:69087360..83308286 [GRCh37]
Chr16:67644861..81865787 [NCBI36]
Chr16:16q22.1-23.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3 copy number gain See cases [RCV000143189] Chr16:75227456..75731127 [GRCh38]
Chr16:75261354..75765025 [GRCh37]
Chr16:73818855..74322526 [NCBI36]
Chr16:16q23.1		 uncertain significance
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3		 pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
NM_014567.5(BCAR1):c.1420G>A (p.Val474Ile) single nucleotide variant Inborn genetic diseases [RCV003245236] Chr16:75235479 [GRCh38]
Chr16:75269377 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
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 16q23.1(chr16:74150909-77077326)x1 copy number loss See cases [RCV000512133] Chr16:74150909..77077326 [GRCh37]
Chr16:16q23.1		 uncertain significance
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
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_014567.5(BCAR1):c.2137C>T (p.Arg713Trp) single nucleotide variant Inborn genetic diseases [RCV003287913] Chr16:75229987 [GRCh38]
Chr16:75263885 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.910G>A (p.Ala304Thr) single nucleotide variant Inborn genetic diseases [RCV003274811] Chr16:75236884 [GRCh38]
Chr16:75270782 [GRCh37]
Chr16:16q23.1		 uncertain significance
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 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_014567.5(BCAR1):c.961C>G (p.Leu321Val) single nucleotide variant Inborn genetic diseases [RCV003241430] Chr16:75235938 [GRCh38]
Chr16:75269836 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_014567.5(BCAR1):c.1151G>A (p.Gly384Asp) single nucleotide variant Inborn genetic diseases [RCV003243604] Chr16:75235748 [GRCh38]
Chr16:75269646 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
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 16q23.1(chr16:75263440-75274282)x1 copy number loss not provided [RCV000739211] Chr16:75263440..75274282 [GRCh37]
Chr16:16q23.1		 benign
GRCh37/hg19 16q23.1(chr16:75268962-75274282)x1 copy number loss not provided [RCV000739212] Chr16:75268962..75274282 [GRCh37]
Chr16:16q23.1		 benign
GRCh37/hg19 16q23.1(chr16:75269046-75270782)x1 copy number loss not provided [RCV000739213] Chr16:75269046..75270782 [GRCh37]
Chr16:16q23.1		 benign
GRCh37/hg19 16q23.1(chr16:75269046-75274282)x1 copy number loss not provided [RCV000739214] Chr16:75269046..75274282 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.1702G>A (p.Gly568Ser) single nucleotide variant not provided [RCV000962416] Chr16:75235197 [GRCh38]
Chr16:75269095 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.1673A>G (p.His558Arg) single nucleotide variant not provided [RCV000967423] Chr16:75235226 [GRCh38]
Chr16:75269124 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.1472G>T (p.Arg491Leu) single nucleotide variant not provided [RCV000967424] Chr16:75235427 [GRCh38]
Chr16:75269325 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.2078A>G (p.Lys693Arg) single nucleotide variant not provided [RCV000884886] Chr16:75233868 [GRCh38]
Chr16:75267766 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.2304C>T (p.Ala768=) single nucleotide variant not provided [RCV000925799] Chr16:75229820 [GRCh38]
Chr16:75263718 [GRCh37]
Chr16:16q23.1		 likely benign
NM_014567.5(BCAR1):c.1768G>A (p.Ala590Thr) single nucleotide variant not provided [RCV000970311] Chr16:75235131 [GRCh38]
Chr16:75269029 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.1349G>T (p.Gly450Val) single nucleotide variant not provided [RCV000970312] Chr16:75235550 [GRCh38]
Chr16:75269448 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.1215C>T (p.Val405=) single nucleotide variant not provided [RCV000962418] Chr16:75235684 [GRCh38]
Chr16:75269582 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.1835C>T (p.Ala612Val) single nucleotide variant not provided [RCV000947724] Chr16:75235064 [GRCh38]
Chr16:75268962 [GRCh37]
Chr16:16q23.1		 likely benign
NM_014567.5(BCAR1):c.1067C>T (p.Pro356Leu) single nucleotide variant not provided [RCV000947725] Chr16:75235832 [GRCh38]
Chr16:75269730 [GRCh37]
Chr16:16q23.1		 benign
GRCh37/hg19 16q23.1(chr16:75225021-75533658)x3 copy number gain not provided [RCV000848186] Chr16:75225021..75533658 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1 copy number loss not provided [RCV000847084] Chr16:72677179..77439111 [GRCh37]
Chr16:16q22.2-23.1		 uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
GRCh37/hg19 16q23.1(chr16:75275780-75684031)x1 copy number loss not provided [RCV000846687] Chr16:75275780..75684031 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.458C>A (p.Pro153His) single nucleotide variant Inborn genetic diseases [RCV003241300] Chr16:75242645 [GRCh38]
Chr16:75276543 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.869C>T (p.Pro290Leu) single nucleotide variant Inborn genetic diseases [RCV003273583] Chr16:75236925 [GRCh38]
Chr16:75270823 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1419C>T (p.Thr473=) single nucleotide variant not provided [RCV000962561] Chr16:75235480 [GRCh38]
Chr16:75269378 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.1068G>A (p.Pro356=) single nucleotide variant not provided [RCV000885293] Chr16:75235831 [GRCh38]
Chr16:75269729 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.1542C>T (p.Ala514=) single nucleotide variant not provided [RCV000962417] Chr16:75235357 [GRCh38]
Chr16:75269255 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.2100+10C>T single nucleotide variant not provided [RCV000954997] Chr16:75233836 [GRCh38]
Chr16:75267734 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.1233G>A (p.Ala411=) single nucleotide variant not provided [RCV000957449] Chr16:75235666 [GRCh38]
Chr16:75269564 [GRCh37]
Chr16:16q23.1		 benign
NM_014567.5(BCAR1):c.1356A>C (p.Glu452Asp) single nucleotide variant not provided [RCV000957448] Chr16:75235543 [GRCh38]
Chr16:75269441 [GRCh37]
Chr16:16q23.1		 benign
GRCh37/hg19 16q23.1(chr16:74356233-75432089)x1 copy number loss not provided [RCV001006805] Chr16:74356233..75432089 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:75281963-75665698)x3 copy number gain not provided [RCV001259871] Chr16:75281963..75665698 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:75064591-75549654)x1 copy number loss not provided [RCV001258649] Chr16:75064591..75549654 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.12+2T>C single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374512] Chr16:75251469 [GRCh38]
Chr16:75285367 [GRCh37]
Chr16:16q23.1		 likely pathogenic
NC_000016.9:g.(?_74748068)_(75513746_?)del deletion Macular corneal dystrophy [RCV001949688] Chr16:74748068..75513746 [GRCh37]
Chr16:16q23.1		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_74485954)_(75339100_?)dup duplication Spastic paraplegia [RCV003122645] Chr16:74485954..75339100 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
NM_014567.5(BCAR1):c.1498C>A (p.Leu500Met) single nucleotide variant Inborn genetic diseases [RCV003254107] Chr16:75235401 [GRCh38]
Chr16:75269299 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4 copy number gain not provided [RCV002475008] Chr16:73673334..76105189 [GRCh37]
Chr16:16q22.3-23.1		 uncertain significance
NM_014567.5(BCAR1):c.241A>C (p.Thr81Pro) single nucleotide variant Inborn genetic diseases [RCV002990174] Chr16:75242862 [GRCh38]
Chr16:75276760 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1 copy number loss not provided [RCV002475848] Chr16:73858079..75855162 [GRCh37]
Chr16:16q22.3-23.1		 uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1 copy number loss not provided [RCV002475774] Chr16:73673334..78137887 [GRCh37]
Chr16:16q22.3-23.1		 uncertain significance
NM_014567.5(BCAR1):c.1568G>A (p.Arg523His) single nucleotide variant Inborn genetic diseases [RCV002733995] Chr16:75235331 [GRCh38]
Chr16:75269229 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.875G>C (p.Ser292Thr) single nucleotide variant Inborn genetic diseases [RCV002734704] Chr16:75236919 [GRCh38]
Chr16:75270817 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.609G>C (p.Trp203Cys) single nucleotide variant Inborn genetic diseases [RCV002682364] Chr16:75242494 [GRCh38]
Chr16:75276392 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.479C>T (p.Pro160Leu) single nucleotide variant Inborn genetic diseases [RCV002841859] Chr16:75242624 [GRCh38]
Chr16:75276522 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.2216C>T (p.Ser739Leu) single nucleotide variant Inborn genetic diseases [RCV002946326] Chr16:75229908 [GRCh38]
Chr16:75263806 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.299C>T (p.Thr100Met) single nucleotide variant Inborn genetic diseases [RCV002973629] Chr16:75242804 [GRCh38]
Chr16:75276702 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.236C>A (p.Pro79His) single nucleotide variant Inborn genetic diseases [RCV002823088] Chr16:75242867 [GRCh38]
Chr16:75276765 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1177C>T (p.Arg393Trp) single nucleotide variant Inborn genetic diseases [RCV002981413] Chr16:75235722 [GRCh38]
Chr16:75269620 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1283C>T (p.Ser428Leu) single nucleotide variant Inborn genetic diseases [RCV002799328] Chr16:75235616 [GRCh38]
Chr16:75269514 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.92C>T (p.Thr31Met) single nucleotide variant Inborn genetic diseases [RCV002783519] Chr16:75243011 [GRCh38]
Chr16:75276909 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1453G>A (p.Gly485Ser) single nucleotide variant Inborn genetic diseases [RCV002950789] Chr16:75235446 [GRCh38]
Chr16:75269344 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.697G>A (p.Glu233Lys) single nucleotide variant Inborn genetic diseases [RCV002760127] Chr16:75237281 [GRCh38]
Chr16:75271179 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.2305G>A (p.Val769Met) single nucleotide variant Inborn genetic diseases [RCV002784190] Chr16:75229819 [GRCh38]
Chr16:75263717 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.895C>T (p.Pro299Ser) single nucleotide variant Inborn genetic diseases [RCV002737438] Chr16:75236899 [GRCh38]
Chr16:75270797 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1202A>T (p.Asp401Val) single nucleotide variant Inborn genetic diseases [RCV002887245] Chr16:75235697 [GRCh38]
Chr16:75269595 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.2105A>G (p.Lys702Arg) single nucleotide variant Inborn genetic diseases [RCV002853857] Chr16:75230019 [GRCh38]
Chr16:75263917 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.421C>T (p.Pro141Ser) single nucleotide variant Inborn genetic diseases [RCV002803729] Chr16:75242682 [GRCh38]
Chr16:75276580 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.838C>G (p.Arg280Gly) single nucleotide variant Inborn genetic diseases [RCV002708752] Chr16:75236956 [GRCh38]
Chr16:75270854 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.2213C>T (p.Pro738Leu) single nucleotide variant Inborn genetic diseases [RCV002641869] Chr16:75229911 [GRCh38]
Chr16:75263809 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.2531A>G (p.Gln844Arg) single nucleotide variant Inborn genetic diseases [RCV002955144] Chr16:75229593 [GRCh38]
Chr16:75263491 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.724G>C (p.Ala242Pro) single nucleotide variant Inborn genetic diseases [RCV002954457] Chr16:75237254 [GRCh38]
Chr16:75271152 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.418C>A (p.Pro140Thr) single nucleotide variant Inborn genetic diseases [RCV003004402] Chr16:75242685 [GRCh38]
Chr16:75276583 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1162G>T (p.Asp388Tyr) single nucleotide variant Inborn genetic diseases [RCV002956165] Chr16:75235737 [GRCh38]
Chr16:75269635 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.2069G>A (p.Arg690Gln) single nucleotide variant Inborn genetic diseases [RCV002744883] Chr16:75233877 [GRCh38]
Chr16:75267775 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.583C>T (p.Pro195Ser) single nucleotide variant Inborn genetic diseases [RCV002786801] Chr16:75242520 [GRCh38]
Chr16:75276418 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.587C>T (p.Pro196Leu) single nucleotide variant Inborn genetic diseases [RCV002673945] Chr16:75242516 [GRCh38]
Chr16:75276414 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.883A>G (p.Lys295Glu) single nucleotide variant Inborn genetic diseases [RCV002936268] Chr16:75236911 [GRCh38]
Chr16:75270809 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.326C>G (p.Pro109Arg) single nucleotide variant Inborn genetic diseases [RCV002920111] Chr16:75242777 [GRCh38]
Chr16:75276675 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1697G>A (p.Arg566Gln) single nucleotide variant Inborn genetic diseases [RCV002648820] Chr16:75235202 [GRCh38]
Chr16:75269100 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1654C>T (p.His552Tyr) single nucleotide variant Inborn genetic diseases [RCV002921657] Chr16:75235245 [GRCh38]
Chr16:75269143 [GRCh37]
Chr16:16q23.1		 likely benign
NM_014567.5(BCAR1):c.674A>C (p.Glu225Ala) single nucleotide variant Inborn genetic diseases [RCV002831660] Chr16:75237304 [GRCh38]
Chr16:75271202 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.844C>G (p.Pro282Ala) single nucleotide variant Inborn genetic diseases [RCV002835925] Chr16:75236950 [GRCh38]
Chr16:75270848 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.604A>G (p.Ser202Gly) single nucleotide variant Inborn genetic diseases [RCV002961101] Chr16:75242499 [GRCh38]
Chr16:75276397 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.2471G>A (p.Arg824His) single nucleotide variant Inborn genetic diseases [RCV002961119] Chr16:75229653 [GRCh38]
Chr16:75263551 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1070C>T (p.Pro357Leu) single nucleotide variant Inborn genetic diseases [RCV002809202] Chr16:75235829 [GRCh38]
Chr16:75269727 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.2485A>G (p.Thr829Ala) single nucleotide variant Inborn genetic diseases [RCV002896124] Chr16:75229639 [GRCh38]
Chr16:75263537 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1036C>G (p.Leu346Val) single nucleotide variant Inborn genetic diseases [RCV002679652] Chr16:75235863 [GRCh38]
Chr16:75269761 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.617C>T (p.Thr206Met) single nucleotide variant Inborn genetic diseases [RCV002680654] Chr16:75242486 [GRCh38]
Chr16:75276384 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1678C>G (p.Gln560Glu) single nucleotide variant Inborn genetic diseases [RCV003184291] Chr16:75235221 [GRCh38]
Chr16:75269119 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1220G>A (p.Ser407Asn) single nucleotide variant Inborn genetic diseases [RCV003174483] Chr16:75235679 [GRCh38]
Chr16:75269577 [GRCh37]
Chr16:16q23.1		 likely benign
NM_014567.5(BCAR1):c.1148C>T (p.Pro383Leu) single nucleotide variant Inborn genetic diseases [RCV003173888] Chr16:75235751 [GRCh38]
Chr16:75269649 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1792C>T (p.His598Tyr) single nucleotide variant Inborn genetic diseases [RCV003204544] Chr16:75235107 [GRCh38]
Chr16:75269005 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.2117G>A (p.Arg706Gln) single nucleotide variant Inborn genetic diseases [RCV003180693] Chr16:75230007 [GRCh38]
Chr16:75263905 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1837C>A (p.Pro613Thr) single nucleotide variant Inborn genetic diseases [RCV003180863] Chr16:75235062 [GRCh38]
Chr16:75268960 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1733G>A (p.Arg578Gln) single nucleotide variant Inborn genetic diseases [RCV003184996] Chr16:75235166 [GRCh38]
Chr16:75269064 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.649C>T (p.Arg217Cys) single nucleotide variant Inborn genetic diseases [RCV003264944] Chr16:75237329 [GRCh38]
Chr16:75271227 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1645G>C (p.Glu549Gln) single nucleotide variant Inborn genetic diseases [RCV003356986] Chr16:75235254 [GRCh38]
Chr16:75269152 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.721C>G (p.Leu241Val) single nucleotide variant Inborn genetic diseases [RCV003356720] Chr16:75237257 [GRCh38]
Chr16:75271155 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1949A>G (p.Asp650Gly) single nucleotide variant Inborn genetic diseases [RCV003360172] Chr16:75234950 [GRCh38]
Chr16:75268848 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.454A>G (p.Thr152Ala) single nucleotide variant not provided [RCV003419458] Chr16:75242649 [GRCh38]
Chr16:75276547 [GRCh37]
Chr16:16q23.1		 likely benign
NM_014567.5(BCAR1):c.182A>G (p.Lys61Arg) single nucleotide variant Inborn genetic diseases [RCV003363345] Chr16:75242921 [GRCh38]
Chr16:75276819 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1450G>A (p.Ala484Thr) single nucleotide variant Inborn genetic diseases [RCV003351832] Chr16:75235449 [GRCh38]
Chr16:75269347 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_014567.5(BCAR1):c.1820G>A (p.Arg607Gln) single nucleotide variant not provided [RCV003419455] Chr16:75235079 [GRCh38]
Chr16:75268977 [GRCh37]
Chr16:16q23.1		 likely benign
GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3 copy number gain not provided [RCV003485121] Chr16:70607067..81561138 [GRCh37]
Chr16:16q22.1-23.2		 pathogenic
NM_014567.5(BCAR1):c.1510C>T (p.Leu504=) single nucleotide variant not provided [RCV003419456] Chr16:75235389 [GRCh38]
Chr16:75269287 [GRCh37]
Chr16:16q23.1		 likely benign
NM_014567.5(BCAR1):c.807A>C (p.Thr269=) single nucleotide variant not provided [RCV003419457] Chr16:75236987 [GRCh38]
Chr16:75270885 [GRCh37]
Chr16:16q23.1		 likely benign
NM_001170715.3(BCAR1):c.66+3450C>G single nucleotide variant not provided [RCV003426845] Chr16:75264465 [GRCh38]
Chr16:75298363 [GRCh37]
Chr16:16q23.1		 likely benign
GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1 copy number loss not specified [RCV003987133] Chr16:74079694..75352818 [GRCh37]
Chr16:16q22.3-23.1		 pathogenic
NM_014567.5(BCAR1):c.1017T>C (p.Phe339=) single nucleotide variant not provided [RCV003887669] Chr16:75235882 [GRCh38]
Chr16:75269780 [GRCh37]
Chr16:16q23.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:11373
Count of miRNA genes:1164
Interacting mature miRNAs:1530
Transcripts:ENST00000162330, ENST00000393420, ENST00000393422, ENST00000418647, ENST00000420641, ENST00000535626, ENST00000538440, ENST00000542031, ENST00000546196, ENST00000561970, ENST00000562556, ENST00000563038, ENST00000563323, ENST00000563700, ENST00000564028, ENST00000564170, ENST00000566465, ENST00000566982, ENST00000567215, ENST00000568864, ENST00000569006, ENST00000569340
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.

Markers in Region
D16S3051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,267,926 - 75,268,201UniSTSGRCh37
Build 361673,825,427 - 73,825,702RGDNCBI36
Celera1659,561,474 - 59,561,746RGD
Cytogenetic Map16q23.1UniSTS
HuRef1661,018,716 - 61,018,988UniSTS
Marshfield Genetic Map1692.1RGD
Marshfield Genetic Map1692.1UniSTS
Genethon Genetic Map1690.7UniSTS
G54085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,263,002 - 75,263,125UniSTSGRCh37
Build 361673,820,503 - 73,820,626RGDNCBI36
Celera1659,556,550 - 59,556,673RGD
Cytogenetic Map16q23.1UniSTS
HuRef1661,013,792 - 61,013,915UniSTS
RH123913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,265,275 - 75,265,468UniSTSGRCh37
Build 361673,822,776 - 73,822,969RGDNCBI36
Celera1659,558,823 - 59,559,016RGD
Cytogenetic Map16q23.1UniSTS
HuRef1661,016,065 - 61,016,258UniSTS
TNG Radiation Hybrid Map1633952.0UniSTS
SHGC-152387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,268,079 - 75,268,178UniSTSGRCh37
Build 361673,825,580 - 73,825,679RGDNCBI36
Celera1659,561,623 - 59,561,723RGD
Cytogenetic Map16q23.1UniSTS
HuRef1661,018,865 - 61,018,965UniSTS
TNG Radiation Hybrid Map57972.0UniSTS
BCAR1_714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,262,953 - 75,263,792UniSTSGRCh37
Build 361673,820,454 - 73,821,293RGDNCBI36
Celera1659,556,501 - 59,557,340RGD
HuRef1661,013,743 - 61,014,582UniSTS


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 2392 2060 1487 398 591 253 3887 2023 3000 365 1431 1582 158 1191 2577 3
Low 43 221 234 225 510 212 469 169 724 54 26 29 17 1 13 211 3 1
Below cutoff 2 692 2 726 2 10 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001170714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB040024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF218451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY545071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ016861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU730553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN348287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA184411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA418642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC310094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC317704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC317947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO681525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000162330   ⟹   ENSP00000162330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,228,181 - 75,251,624 (-)Ensembl
RefSeq Acc Id: ENST00000393420   ⟹   ENSP00000377072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,229,511 - 75,251,482 (-)Ensembl
RefSeq Acc Id: ENST00000393422   ⟹   ENSP00000377074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,228,187 - 75,268,053 (-)Ensembl
RefSeq Acc Id: ENST00000418647   ⟹   ENSP00000391669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,229,159 - 75,266,007 (-)Ensembl
RefSeq Acc Id: ENST00000420641   ⟹   ENSP00000392708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,229,455 - 75,266,781 (-)Ensembl
RefSeq Acc Id: ENST00000535626   ⟹   ENSP00000440370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,229,062 - 75,265,948 (-)Ensembl
RefSeq Acc Id: ENST00000538440   ⟹   ENSP00000443841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,229,103 - 75,266,007 (-)Ensembl
RefSeq Acc Id: ENST00000542031   ⟹   ENSP00000440415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,229,453 - 75,248,240 (-)Ensembl
RefSeq Acc Id: ENST00000546196   ⟹   ENSP00000442161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,263,876 - 75,265,215 (-)Ensembl
RefSeq Acc Id: ENST00000561970   ⟹   ENSP00000457457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,242,776 - 75,250,947 (-)Ensembl
RefSeq Acc Id: ENST00000562556   ⟹   ENSP00000455166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,229,031 - 75,265,215 (-)Ensembl
RefSeq Acc Id: ENST00000563038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,229,037 - 75,236,503 (-)Ensembl
RefSeq Acc Id: ENST00000563323   ⟹   ENSP00000457097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,242,840 - 75,266,382 (-)Ensembl
RefSeq Acc Id: ENST00000563700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,243,055 - 75,250,104 (-)Ensembl
RefSeq Acc Id: ENST00000564028   ⟹   ENSP00000455810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,242,615 - 75,251,880 (-)Ensembl
RefSeq Acc Id: ENST00000564170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,236,696 - 75,237,431 (-)Ensembl
RefSeq Acc Id: ENST00000566465   ⟹   ENSP00000456929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,242,632 - 75,248,943 (-)Ensembl
RefSeq Acc Id: ENST00000566982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,229,037 - 75,238,660 (-)Ensembl
RefSeq Acc Id: ENST00000567215   ⟹   ENSP00000457231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,242,865 - 75,249,966 (-)Ensembl
RefSeq Acc Id: ENST00000568864   ⟹   ENSP00000456625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,242,611 - 75,264,416 (-)Ensembl
RefSeq Acc Id: ENST00000569006   ⟹   ENSP00000458088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,242,656 - 75,256,280 (-)Ensembl
RefSeq Acc Id: ENST00000569340   ⟹   ENSP00000454702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,235,668 - 75,242,702 (-)Ensembl
RefSeq Acc Id: NM_001170714   ⟹   NP_001164185
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,228,181 - 75,266,007 (-)NCBI
GRCh371675,262,928 - 75,301,951 (-)ENTREZGENE
HuRef1661,013,718 - 61,052,474 (-)ENTREZGENE
CHM1_11676,675,047 - 76,712,023 (-)NCBI
T2T-CHM13v2.01681,274,930 - 81,312,756 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170715   ⟹   NP_001164186
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,228,181 - 75,268,007 (-)NCBI
GRCh371675,262,928 - 75,301,951 (-)ENTREZGENE
HuRef1661,013,718 - 61,052,474 (-)ENTREZGENE
CHM1_11676,675,047 - 76,714,069 (-)NCBI
T2T-CHM13v2.01681,274,930 - 81,314,755 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170716   ⟹   NP_001164187
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,228,181 - 75,266,905 (-)NCBI
GRCh371675,262,928 - 75,301,951 (-)ENTREZGENE
HuRef1661,013,718 - 61,052,474 (-)ENTREZGENE
CHM1_11676,675,047 - 76,712,825 (-)NCBI
T2T-CHM13v2.01681,274,930 - 81,313,654 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170717   ⟹   NP_001164188
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,228,181 - 75,251,624 (-)NCBI
GRCh371675,262,928 - 75,301,951 (-)ENTREZGENE
HuRef1661,013,718 - 61,052,474 (-)ENTREZGENE
CHM1_11676,675,047 - 76,697,636 (-)NCBI
T2T-CHM13v2.01681,274,930 - 81,298,373 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170718   ⟹   NP_001164189
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,228,181 - 75,266,007 (-)NCBI
GRCh371675,262,928 - 75,301,951 (-)ENTREZGENE
HuRef1661,013,718 - 61,052,474 (-)ENTREZGENE
CHM1_11676,675,047 - 76,712,023 (-)NCBI
T2T-CHM13v2.01681,274,930 - 81,312,756 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170719   ⟹   NP_001164190
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,228,181 - 75,248,151 (-)NCBI
GRCh371675,262,928 - 75,301,951 (-)ENTREZGENE
HuRef1661,013,718 - 61,052,474 (-)ENTREZGENE
CHM1_11676,675,047 - 76,694,334 (-)NCBI
T2T-CHM13v2.01681,274,930 - 81,294,900 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170720   ⟹   NP_001164191
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,228,181 - 75,266,007 (-)NCBI
GRCh371675,262,928 - 75,301,951 (-)ENTREZGENE
HuRef1661,013,718 - 61,052,474 (-)ENTREZGENE
CHM1_11676,675,047 - 76,711,964 (-)NCBI
T2T-CHM13v2.01681,274,930 - 81,312,756 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170721   ⟹   NP_001164192
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,228,181 - 75,238,660 (-)NCBI
GRCh371675,262,928 - 75,301,951 (-)ENTREZGENE
HuRef1661,013,718 - 61,052,474 (-)ENTREZGENE
CHM1_11676,675,047 - 76,685,100 (-)NCBI
T2T-CHM13v2.01681,274,930 - 81,285,409 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014567   ⟹   NP_055382
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,228,181 - 75,251,624 (-)NCBI
GRCh371675,262,928 - 75,301,951 (-)ENTREZGENE
Build 361673,820,429 - 73,843,004 (-)NCBI Archive
HuRef1661,013,718 - 61,052,474 (-)ENTREZGENE
CHM1_11676,675,047 - 76,697,636 (-)NCBI
T2T-CHM13v2.01681,274,930 - 81,298,373 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001164185 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164186 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164187 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164188 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164189 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164190 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164191 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164192 (Get FASTA)   NCBI Sequence Viewer  
  NP_055382 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF27527 (Get FASTA)   NCBI Sequence Viewer  
  AAH14402 (Get FASTA)   NCBI Sequence Viewer  
  AAH62556 (Get FASTA)   NCBI Sequence Viewer  
  AAS48631 (Get FASTA)   NCBI Sequence Viewer  
  BAA92711 (Get FASTA)   NCBI Sequence Viewer  
  BAB55230 (Get FASTA)   NCBI Sequence Viewer  
  BAC11315 (Get FASTA)   NCBI Sequence Viewer  
  BAG37266 (Get FASTA)   NCBI Sequence Viewer  
  BAG54047 (Get FASTA)   NCBI Sequence Viewer  
  BAG54099 (Get FASTA)   NCBI Sequence Viewer  
  BAG54104 (Get FASTA)   NCBI Sequence Viewer  
  BAG54238 (Get FASTA)   NCBI Sequence Viewer  
  BAG57215 (Get FASTA)   NCBI Sequence Viewer  
  BAG57726 (Get FASTA)   NCBI Sequence Viewer  
  BAG58627 (Get FASTA)   NCBI Sequence Viewer  
  BAH13763 (Get FASTA)   NCBI Sequence Viewer  
  CAB75875 (Get FASTA)   NCBI Sequence Viewer  
  EAW95651 (Get FASTA)   NCBI Sequence Viewer  
  EAW95652 (Get FASTA)   NCBI Sequence Viewer  
  EAW95653 (Get FASTA)   NCBI Sequence Viewer  
  EAW95654 (Get FASTA)   NCBI Sequence Viewer  
  EAW95655 (Get FASTA)   NCBI Sequence Viewer  
  EAW95656 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000162330
  ENSP00000162330.5
  ENSP00000377072
  ENSP00000377072.6
  ENSP00000377074
  ENSP00000377074.2
  ENSP00000391669
  ENSP00000391669.3
  ENSP00000392708
  ENSP00000392708.3
  ENSP00000440370
  ENSP00000440370.2
  ENSP00000440415
  ENSP00000440415.2
  ENSP00000442161.2
  ENSP00000443841
  ENSP00000443841.2
  ENSP00000454702.1
  ENSP00000455166.1
  ENSP00000455810.1
  ENSP00000456625.1
  ENSP00000456929.1
  ENSP00000457097.1
  ENSP00000457231.1
  ENSP00000457457.1
  ENSP00000458088.1
GenBank Protein P56945 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001164186   ⟸   NM_001170715
- Peptide Label: isoform 2
- UniProtKB: Q6P5Z4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164187   ⟸   NM_001170716
- Peptide Label: isoform 3
- UniProtKB: Q6P5Z4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164189   ⟸   NM_001170718
- Peptide Label: isoform 5
- UniProtKB: Q6P5Z4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164185   ⟸   NM_001170714
- Peptide Label: isoform 1
- UniProtKB: Q6P5Z4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164191   ⟸   NM_001170720
- Peptide Label: isoform 8
- UniProtKB: Q8NC57 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055382   ⟸   NM_014567
- Peptide Label: isoform 6
- UniProtKB: F8WA69 (UniProtKB/Swiss-Prot),   F5H7Z0 (UniProtKB/Swiss-Prot),   F5GXV6 (UniProtKB/Swiss-Prot),   F5GXA2 (UniProtKB/Swiss-Prot),   E9PCV2 (UniProtKB/Swiss-Prot),   E9PCL5 (UniProtKB/Swiss-Prot),   B7Z7X7 (UniProtKB/Swiss-Prot),   B4DIW5 (UniProtKB/Swiss-Prot),   B4DGB5 (UniProtKB/Swiss-Prot),   B4DEV4 (UniProtKB/Swiss-Prot),   B3KWD7 (UniProtKB/Swiss-Prot),   Q6QEF7 (UniProtKB/Swiss-Prot),   P56945 (UniProtKB/Swiss-Prot),   Q6P5Z4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164188   ⟸   NM_001170717
- Peptide Label: isoform 4
- UniProtKB: Q6P5Z4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164190   ⟸   NM_001170719
- Peptide Label: isoform 7
- UniProtKB: Q6P5Z4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164192   ⟸   NM_001170721
- Peptide Label: isoform 9
- UniProtKB: B3KWE2 (UniProtKB/TrEMBL),   Q8NC57 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000440415   ⟸   ENST00000542031
RefSeq Acc Id: ENSP00000162330   ⟸   ENST00000162330
RefSeq Acc Id: ENSP00000442161   ⟸   ENST00000546196
RefSeq Acc Id: ENSP00000440370   ⟸   ENST00000535626
RefSeq Acc Id: ENSP00000457457   ⟸   ENST00000561970
RefSeq Acc Id: ENSP00000391669   ⟸   ENST00000418647
RefSeq Acc Id: ENSP00000455166   ⟸   ENST00000562556
RefSeq Acc Id: ENSP00000443841   ⟸   ENST00000538440
RefSeq Acc Id: ENSP00000457097   ⟸   ENST00000563323
RefSeq Acc Id: ENSP00000455810   ⟸   ENST00000564028
RefSeq Acc Id: ENSP00000377074   ⟸   ENST00000393422
RefSeq Acc Id: ENSP00000377072   ⟸   ENST00000393420
RefSeq Acc Id: ENSP00000456929   ⟸   ENST00000566465
RefSeq Acc Id: ENSP00000392708   ⟸   ENST00000420641
RefSeq Acc Id: ENSP00000457231   ⟸   ENST00000567215
RefSeq Acc Id: ENSP00000456625   ⟸   ENST00000568864
RefSeq Acc Id: ENSP00000454702   ⟸   ENST00000569340
RefSeq Acc Id: ENSP00000458088   ⟸   ENST00000569006
Protein Domains
CAS family C-terminal   Serine rich protein interaction   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P56945-F1-model_v2 AlphaFold P56945 1-870 view protein structure

Promoters
RGD ID:6792845
Promoter ID:HG_KWN:24267
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002FDT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361673,826,666 - 73,828,817 (-)MPROMDB
RGD ID:6810896
Promoter ID:HG_ACW:31616
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:BCAR1.SAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361673,842,221 - 73,842,721 (-)MPROMDB
RGD ID:6792844
Promoter ID:HG_KWN:24271
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001170717,   OTTHUMT00000269017
Position:
Human AssemblyChrPosition (strand)Source
Build 361673,842,704 - 73,843,204 (-)MPROMDB
RGD ID:7232851
Promoter ID:EPDNEW_H22171
Type:initiation region
Name:BCAR1_1
Description:BCAR1, Cas family scaffolding protein
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
GRCh381675,251,624 - 75,251,684EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:971 AgrOrtholog
COSMIC BCAR1 COSMIC
Ensembl Genes ENSG00000050820 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000162330 ENTREZGENE
  ENST00000162330.10 UniProtKB/Swiss-Prot
  ENST00000393420 ENTREZGENE
  ENST00000393420.10 UniProtKB/Swiss-Prot
  ENST00000393422 ENTREZGENE
  ENST00000393422.6 UniProtKB/Swiss-Prot
  ENST00000418647 ENTREZGENE
  ENST00000418647.7 UniProtKB/Swiss-Prot
  ENST00000420641 ENTREZGENE
  ENST00000420641.7 UniProtKB/Swiss-Prot
  ENST00000535626 ENTREZGENE
  ENST00000535626.6 UniProtKB/Swiss-Prot
  ENST00000538440 ENTREZGENE
  ENST00000538440.6 UniProtKB/Swiss-Prot
  ENST00000542031 ENTREZGENE
  ENST00000542031.6 UniProtKB/Swiss-Prot
  ENST00000546196.2 UniProtKB/TrEMBL
  ENST00000561970.1 UniProtKB/TrEMBL
  ENST00000562556.5 UniProtKB/TrEMBL
  ENST00000563323.1 UniProtKB/TrEMBL
  ENST00000564028.1 UniProtKB/TrEMBL
  ENST00000566465.1 UniProtKB/TrEMBL
  ENST00000567215.1 UniProtKB/TrEMBL
  ENST00000568864.1 UniProtKB/TrEMBL
  ENST00000569006.1 UniProtKB/TrEMBL
  ENST00000569340.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.830 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alpha-catenin/vinculin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000050820 GTEx
HGNC ID HGNC:971 ENTREZGENE
Human Proteome Map BCAR1 Human Proteome Map
InterPro BCAR1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BCAR1_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAS_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAS_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serine_rich_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serine_rich_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9564 UniProtKB/Swiss-Prot
NCBI Gene 9564 ENTREZGENE
OMIM 602941 OMIM
PANTHER PTHR10654 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10654:SF15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CAS_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serine_rich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_2 UniProtKB/TrEMBL
PharmGKB BCAR1 RGD, PharmGKB
PRINTS SH3DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPECTRNALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KW85_HUMAN UniProtKB/TrEMBL
  B3KWD7 ENTREZGENE
  B3KWE2 ENTREZGENE, UniProtKB/TrEMBL
  B4DEV4 ENTREZGENE
  B4DGB5 ENTREZGENE
  B4DIW5 ENTREZGENE
  B7Z7X7 ENTREZGENE
  BCAR1_HUMAN UniProtKB/Swiss-Prot
  E9PCL5 ENTREZGENE
  E9PCV2 ENTREZGENE
  F5GXA2 ENTREZGENE
  F5GXV6 ENTREZGENE
  F5H7Z0 ENTREZGENE
  F5H855_HUMAN UniProtKB/TrEMBL
  F8WA69 ENTREZGENE
  H3BN62_HUMAN UniProtKB/TrEMBL
  H3BQJ7_HUMAN UniProtKB/TrEMBL
  H3BSB2_HUMAN UniProtKB/TrEMBL
  H3BSY4_HUMAN UniProtKB/TrEMBL
  H3BTB0_HUMAN UniProtKB/TrEMBL
  H3BTL5_HUMAN UniProtKB/TrEMBL
  H3BU42_HUMAN UniProtKB/TrEMBL
  H3BVF0_HUMAN UniProtKB/TrEMBL
  P56945 ENTREZGENE
  Q6P5Z4 ENTREZGENE, UniProtKB/TrEMBL
  Q6QEF7 ENTREZGENE
  Q8NC57 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B3KWD7 UniProtKB/Swiss-Prot
  B4DEV4 UniProtKB/Swiss-Prot
  B4DGB5 UniProtKB/Swiss-Prot
  B4DIW5 UniProtKB/Swiss-Prot
  B7Z7X7 UniProtKB/Swiss-Prot
  E9PCL5 UniProtKB/Swiss-Prot
  E9PCV2 UniProtKB/Swiss-Prot
  F5GXA2 UniProtKB/Swiss-Prot
  F5GXV6 UniProtKB/Swiss-Prot
  F5H7Z0 UniProtKB/Swiss-Prot
  F8WA69 UniProtKB/Swiss-Prot
  H3BP62 UniProtKB/TrEMBL
  Q6QEF7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 BCAR1  BCAR1 scaffold protein, Cas family member  BCAR1  BCAR1, Cas family scaffold protein  Symbol and/or name change 5135510 APPROVED
2018-03-06 BCAR1  BCAR1, Cas family scaffold protein  BCAR1  BCAR1, Cas family scaffolding protein  Symbol and/or name change 5135510 APPROVED
2016-04-26 BCAR1  BCAR1, Cas family scaffolding protein  BCAR1  breast cancer anti-estrogen resistance 1  Symbol and/or name change 5135510 APPROVED