BCO1 (beta-carotene oxygenase 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: BCO1 (beta-carotene oxygenase 1) Homo sapiens
Analyze
Symbol: BCO1
Name: beta-carotene oxygenase 1
RGD ID: 1346552
HGNC Page HGNC:13815
Description: Enables beta-carotene 15,15'-dioxygenase activity. Involved in carotene catabolic process and retinal metabolic process. Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BCDO; BCDO1; BCMO; BCMO1; BCO; beta,beta-carotene 15,15'-dioxygenase; beta,beta-carotene 15,15'-monooxygenase; beta-carotene 15, 15'-dioxygenase 1; beta-carotene 15,15'-monooxygenase 1; beta-carotene dioxygenase 1; FLJ10730
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
GRCh381681,238,689 - 81,291,142 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1681,238,689 - 81,291,142 (+)EnsemblGRCh38hg38GRCh38
GRCh371681,272,294 - 81,324,747 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361679,829,797 - 79,882,248 (+)NCBINCBI36Build 36hg18NCBI36
Build 341679,829,796 - 79,882,248NCBI
Celera1665,569,740 - 65,622,032 (+)NCBICelera
Cytogenetic Map16q23.2NCBI
HuRef1667,027,575 - 67,079,925 (+)NCBIHuRef
CHM1_11682,683,655 - 82,736,052 (+)NCBICHM1_1
T2T-CHM13v2.01687,299,473 - 87,351,905 (+)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->4)-beta-D-glucan  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
9-cis-retinoic acid  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
Allylamine  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-carotene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
D-glucose  (ISO)
diarsenic trioxide  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
fructose  (ISO)
furan  (ISO)
gentamycin  (ISO)
glucose  (ISO)
herbicide  (ISO)
inulin  (ISO)
L-ascorbic acid  (ISO)
lycopene  (ISO)
mercury dibromide  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
nitrofen  (ISO)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
Ro 41-5253  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vitamin E  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IEA,ISS,TAS)

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mechanisms involved in the intestinal absorption of dietary vitamin A and provitamin A carotenoids. Harrison EH Biochim Biophys Acta. 2012 Jan;1821(1):70-7. Epub 2011 Jun 12.
3. Mammalian carotenoid-oxygenases: key players for carotenoid function and homeostasis. Lobo GP, etal., Biochim Biophys Acta. 2012 Jan;1821(1):78-87. Epub 2011 May 4.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Cloning and expression of beta,beta-carotene 15,15'-dioxygenase. Wyss A, etal., Biochem Biophys Res Commun 2000 May 10;271(2):334-6.
Additional References at PubMed
PMID:10766819   PMID:11401432   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15583024   PMID:15983114   PMID:16504037   PMID:17951468   PMID:18282583   PMID:18295589   PMID:18464913  
PMID:19103647   PMID:19185284   PMID:19662379   PMID:19844255   PMID:20221844   PMID:20599666   PMID:21091228   PMID:21873635   PMID:22113863   PMID:23134893   PMID:23517913   PMID:23656756  
PMID:23727499   PMID:23803888   PMID:24071514   PMID:24106281   PMID:24187135   PMID:24586510   PMID:24668807   PMID:25270992   PMID:25445224   PMID:28005968   PMID:28514442   PMID:28732066  
PMID:29428584   PMID:29673335   PMID:30801647   PMID:30896431   PMID:31048207   PMID:32035229   PMID:32061750   PMID:32433733   PMID:32560166   PMID:33961781   PMID:34299191   PMID:34481002  
PMID:35461060   PMID:35994463   PMID:36233117  


Genomics

Comparative Map Data
BCO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381681,238,689 - 81,291,142 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1681,238,689 - 81,291,142 (+)EnsemblGRCh38hg38GRCh38
GRCh371681,272,294 - 81,324,747 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361679,829,797 - 79,882,248 (+)NCBINCBI36Build 36hg18NCBI36
Build 341679,829,796 - 79,882,248NCBI
Celera1665,569,740 - 65,622,032 (+)NCBICelera
Cytogenetic Map16q23.2NCBI
HuRef1667,027,575 - 67,079,925 (+)NCBIHuRef
CHM1_11682,683,655 - 82,736,052 (+)NCBICHM1_1
T2T-CHM13v2.01687,299,473 - 87,351,905 (+)NCBIT2T-CHM13v2.0
Bco1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398117,822,590 - 117,860,459 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8117,822,593 - 117,860,459 (+)EnsemblGRCm39 Ensembl
GRCm388117,095,851 - 117,133,720 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8117,095,854 - 117,133,720 (+)EnsemblGRCm38mm10GRCm38
MGSCv378119,619,765 - 119,657,620 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368119,981,842 - 120,019,458 (+)NCBIMGSCv36mm8
Celera8121,315,369 - 121,353,295 (+)NCBICelera
Cytogenetic Map8E1NCBI
cM Map863.61NCBI
Bco1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81962,058,061 - 62,094,923 (+)NCBIGRCr8
mRatBN7.21945,149,250 - 45,186,102 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1945,149,265 - 45,186,101 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1951,959,095 - 51,995,942 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01952,612,116 - 52,648,960 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01954,856,354 - 54,893,189 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01949,637,059 - 49,673,577 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1949,637,016 - 49,673,808 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01960,424,580 - 60,460,636 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41947,202,955 - 47,239,225 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11947,207,835 - 47,244,106 (+)NCBI
Celera1944,421,345 - 44,457,802 (+)NCBICelera
Cytogenetic Map19q12NCBI
Bco1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555223,985,266 - 4,018,886 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555223,985,515 - 4,018,116 (+)NCBIChiLan1.0ChiLan1.0
BCO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21890,987,587 - 91,047,027 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11696,908,478 - 96,962,121 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01661,843,567 - 61,897,012 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11681,270,957 - 81,323,088 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1681,270,577 - 81,323,088 (+)Ensemblpanpan1.1panPan2
BCO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1570,598,743 - 70,637,273 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl570,599,284 - 70,637,017 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha570,547,948 - 70,586,427 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0570,903,713 - 70,942,206 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl570,903,715 - 70,942,392 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1570,846,152 - 70,884,642 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0570,681,343 - 70,719,822 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0571,159,198 - 71,197,682 (-)NCBIUU_Cfam_GSD_1.0
Bco1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934930,698,707 - 30,729,976 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647528,859,318 - 28,889,934 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647528,859,222 - 28,890,407 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl67,012,332 - 7,055,305 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.167,008,330 - 7,054,089 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
BCO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1566,681,756 - 66,730,832 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl566,681,513 - 66,733,604 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660479,105,596 - 9,155,354 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bco1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247466,143,892 - 6,180,408 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247466,146,338 - 6,181,020 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BCO1
63 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017429.3(BCO1):c.509C>T (p.Thr170Met) single nucleotide variant BCO1-related disorder [RCV003924801]|Hereditary hypercarotenemia and vitamin A deficiency [RCV000005038]|not specified [RCV002247250] Chr16:81264677 [GRCh38]
Chr16:81298282 [GRCh37]
Chr16:16q23.2		 pathogenic|uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
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 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3		 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 16q23.1-24.2(chr16:78704275-87819342)x1 copy number loss See cases [RCV000053359] Chr16:78704275..87819342 [GRCh38]
Chr16:78738172..87852948 [GRCh37]
Chr16:77295673..86410449 [NCBI36]
Chr16:16q23.1-24.2		 pathogenic
GRCh38/hg38 16q23.2(chr16:80975821-81354743)x3 copy number gain See cases [RCV000053930] Chr16:80975821..81354743 [GRCh38]
Chr16:81009718..81388348 [GRCh37]
Chr16:79567219..79945849 [NCBI36]
Chr16:16q23.2		 uncertain significance
GRCh38/hg38 16q23.2-23.3(chr16:80946459-81666544)x3 copy number gain See cases [RCV000053902] Chr16:80946459..81666544 [GRCh38]
Chr16:80980356..81700149 [GRCh37]
Chr16:79537857..80257650 [NCBI36]
Chr16:16q23.2-23.3		 uncertain significance
NM_017429.2(BCO1):c.1066C>T (p.Leu356Phe) single nucleotide variant Malignant melanoma [RCV000071247] Chr16:81270381 [GRCh38]
Chr16:81303986 [GRCh37]
Chr16:79861487 [NCBI36]
Chr16:16q23.2		 not provided
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 16q23.1-23.3(chr16:78790450-83255421)x1 copy number loss See cases [RCV000135302] Chr16:78790450..83255421 [GRCh38]
Chr16:78824347..83289026 [GRCh37]
Chr16:77381848..81846527 [NCBI36]
Chr16:16q23.1-23.3		 pathogenic
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 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic|likely 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 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
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 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3		 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 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
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely 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
GRCh38/hg38 16q23.2(chr16:81216324-81270286)x1 copy number loss Premature ovarian failure [RCV000225162] Chr16:81216324..81270286 [GRCh38]
Chr16:81249929..81303891 [GRCh37]
Chr16:16q23.2		 benign
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 16q23.2(chr16:81324409-81412174)x1 copy number loss See cases [RCV000446431] Chr16:81324409..81412174 [GRCh37]
Chr16:16q23.2		 likely benign
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 16q23.2(chr16:80228506-81280700)x3 copy number gain See cases [RCV000446946] Chr16:80228506..81280700 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1622G>A (p.Cys541Tyr) single nucleotide variant not provided [RCV000420606] Chr16:81290555 [GRCh38]
Chr16:81324160 [GRCh37]
Chr16:16q23.2		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q23.2(chr16:80976347-81647826)x3 copy number gain See cases [RCV000445722] Chr16:80976347..81647826 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:81234781-81287239) copy number loss Abnormal esophagus morphology [RCV000416838] Chr16:81234781..81287239 [GRCh37]
Chr16:16q23.2		 benign
GRCh37/hg19 16q23.2(chr16:81224220-81324409)x3 copy number gain See cases [RCV000448975] Chr16:81224220..81324409 [GRCh37]
Chr16:16q23.2		 likely benign
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
NM_017429.3(BCO1):c.1141A>G (p.Thr381Ala) single nucleotide variant not specified [RCV004308185] Chr16:81280896 [GRCh38]
Chr16:81314501 [GRCh37]
Chr16:16q23.2		 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_017429.3(BCO1):c.296C>A (p.Pro99Gln) single nucleotide variant not specified [RCV004321118] Chr16:81259778 [GRCh38]
Chr16:81293383 [GRCh37]
Chr16:16q23.2		 uncertain significance
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-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
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 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
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3		 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 16q23.2-23.3(chr16:81188538-81773209)x1 copy number loss not provided [RCV000683848] Chr16:81188538..81773209 [GRCh37]
Chr16:16q23.2-23.3		 uncertain significance
NC_000016.9:g.(?_80623263)_(81411221_?)del deletion Giant axonal neuropathy 1 [RCV000708372] Chr16:80623263..81411221 [GRCh37]
Chr16:16q23.2		 pathogenic|likely 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
NM_017429.3(BCO1):c.843+273A>G single nucleotide variant not provided [RCV001648374] Chr16:81268404 [GRCh38]
Chr16:81302009 [GRCh37]
Chr16:16q23.2		 benign
GRCh37/hg19 16q23.2(chr16:81199554-81344709)x3 copy number gain not provided [RCV000751779] Chr16:81199554..81344709 [GRCh37]
Chr16:16q23.2		 benign
GRCh37/hg19 16q23.2(chr16:81200465-81331097)x3 copy number gain not provided [RCV000751780] Chr16:81200465..81331097 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.510G>A (p.Thr170=) single nucleotide variant not provided [RCV000951138] Chr16:81264678 [GRCh38]
Chr16:81298283 [GRCh37]
Chr16:16q23.2		 likely benign
GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1 copy number loss not provided [RCV001006824] Chr16:80476611..82397606 [GRCh37]
Chr16:16q23.2-23.3		 likely pathogenic
NM_017429.3(BCO1):c.1415G>C (p.Gly472Ala) single nucleotide variant BCO1-related disorder [RCV003915837]|not provided [RCV000954299] Chr16:81290348 [GRCh38]
Chr16:81323953 [GRCh37]
Chr16:16q23.2		 benign|likely benign
GRCh37/hg19 16q23.2(chr16:81157384-81293129)x1 copy number loss not provided [RCV000848287] Chr16:81157384..81293129 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:81263053-81278025)x1 copy number loss not provided [RCV000849839] Chr16:81263053..81278025 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:81197213-81347389)x3 copy number gain not provided [RCV000849019] Chr16:81197213..81347389 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:81198619-81346417)x3 copy number gain not provided [RCV000848143] Chr16:81198619..81346417 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:81197213-81448197)x1 copy number loss not provided [RCV000849296] Chr16:81197213..81448197 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:81263019-81278025)x1 copy number loss not provided [RCV000848351] Chr16:81263019..81278025 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:81263019-81278025)x1 copy number loss not provided [RCV000849381] Chr16:81263019..81278025 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:81263019-81278025)x1 copy number loss not provided [RCV000849383] Chr16:81263019..81278025 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2-23.3(chr16:81185877-81773026)x1 copy number loss not provided [RCV000849436] Chr16:81185877..81773026 [GRCh37]
Chr16:16q23.2-23.3		 uncertain significance
GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1 copy number loss not provided [RCV000849998] Chr16:79254648..84827672 [GRCh37]
Chr16:16q23.2-24.1		 uncertain significance
NM_017429.3(BCO1):c.1504C>T (p.Arg502Cys) single nucleotide variant not specified [RCV004293671] Chr16:81290437 [GRCh38]
Chr16:81324042 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.844-5T>C single nucleotide variant not provided [RCV001619047] Chr16:81270154 [GRCh38]
Chr16:81303759 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.1208-263A>G single nucleotide variant not provided [RCV001688348] Chr16:81285277 [GRCh38]
Chr16:81318882 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.1303-70A>G single nucleotide variant not provided [RCV001720362] Chr16:81287225 [GRCh38]
Chr16:81320830 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.619+145C>G single nucleotide variant not provided [RCV001635589] Chr16:81264932 [GRCh38]
Chr16:81298537 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.678A>T (p.Pro226=) single nucleotide variant not provided [RCV000930317] Chr16:81267966 [GRCh38]
Chr16:81301571 [GRCh37]
Chr16:16q23.2		 likely benign
NM_017429.3(BCO1):c.1588G>A (p.Ala530Thr) single nucleotide variant not provided [RCV000887066] Chr16:81290521 [GRCh38]
Chr16:81324126 [GRCh37]
Chr16:16q23.2		 benign
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
NM_017429.3(BCO1):c.1102-81T>C single nucleotide variant not provided [RCV001720404] Chr16:81280776 [GRCh38]
Chr16:81314381 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.1414+287T>G single nucleotide variant not provided [RCV001608232] Chr16:81287693 [GRCh38]
Chr16:81321298 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.678A>G (p.Pro226=) single nucleotide variant not provided [RCV001621316] Chr16:81267966 [GRCh38]
Chr16:81301571 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.620-53G>C single nucleotide variant not provided [RCV001608681] Chr16:81267855 [GRCh38]
Chr16:81301460 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.471+14T>C single nucleotide variant not provided [RCV001677972] Chr16:81262297 [GRCh38]
Chr16:81295902 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.193+265_193+272del deletion not provided [RCV001598024] Chr16:81245850..81245857 [GRCh38]
Chr16:81279455..81279462 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.64+51T>A single nucleotide variant not provided [RCV001678223] Chr16:81239023 [GRCh38]
Chr16:81272628 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.193+170C>G single nucleotide variant not provided [RCV001682591] Chr16:81245773 [GRCh38]
Chr16:81279378 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.193+272dup duplication not provided [RCV001599188] Chr16:81245849..81245850 [GRCh38]
Chr16:81279454..81279455 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.1302+199G>A single nucleotide variant not provided [RCV001678510] Chr16:81285833 [GRCh38]
Chr16:81319438 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.1101+48C>T single nucleotide variant not provided [RCV001724615] Chr16:81270464 [GRCh38]
Chr16:81304069 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.363C>A (p.Thr121=) single nucleotide variant BCO1-related disorder [RCV003921269]|not provided [RCV001616777] Chr16:81262175 [GRCh38]
Chr16:81295780 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.64+206G>A single nucleotide variant not provided [RCV001714072] Chr16:81239178 [GRCh38]
Chr16:81272783 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.194-74A>G single nucleotide variant not provided [RCV001710710] Chr16:81259602 [GRCh38]
Chr16:81293207 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.1136C>T (p.Ala379Val) single nucleotide variant not provided [RCV001662898] Chr16:81280891 [GRCh38]
Chr16:81314496 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.105T>C (p.Asn35=) single nucleotide variant not provided [RCV001652411] Chr16:81245515 [GRCh38]
Chr16:81279120 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.194-238G>A single nucleotide variant not provided [RCV001612561] Chr16:81259438 [GRCh38]
Chr16:81293043 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.193+274T>C single nucleotide variant not provided [RCV001668718] Chr16:81245877 [GRCh38]
Chr16:81279482 [GRCh37]
Chr16:16q23.2		 benign
GRCh37/hg19 16q23.2-23.3(chr16:80483625-82044152)x1 copy number loss not provided [RCV001258654] Chr16:80483625..82044152 [GRCh37]
Chr16:16q23.2-23.3		 likely pathogenic
NM_017429.3(BCO1):c.1303-13G>A single nucleotide variant not provided [RCV001641207] Chr16:81287282 [GRCh38]
Chr16:81320887 [GRCh37]
Chr16:16q23.2		 benign
GRCh37/hg19 16q23.2(chr16:81237213-81367271)x1 copy number loss not provided [RCV001258653] Chr16:81237213..81367271 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.323+259G>A single nucleotide variant not provided [RCV001648714] Chr16:81260064 [GRCh38]
Chr16:81293669 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.801A>T (p.Arg267Ser) single nucleotide variant not provided [RCV001717438] Chr16:81268089 [GRCh38]
Chr16:81301694 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.193+226A>G single nucleotide variant not provided [RCV001654552] Chr16:81245829 [GRCh38]
Chr16:81279434 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.472-212A>G single nucleotide variant not provided [RCV001686916] Chr16:81264428 [GRCh38]
Chr16:81298033 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.194-219A>G single nucleotide variant not provided [RCV001614663] Chr16:81259457 [GRCh38]
Chr16:81293062 [GRCh37]
Chr16:16q23.2		 benign
NM_017429.3(BCO1):c.193+267_193+272del deletion not provided [RCV001654170] Chr16:81245850..81245855 [GRCh38]
Chr16:81279455..81279460 [GRCh37]
Chr16:16q23.2		 benign
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
NC_000016.9:g.(?_81116471)_(81991603_?)dup duplication Familial cold autoinflammatory syndrome 3 [RCV004582738] Chr16:81116471..81991603 [GRCh37]
Chr16:16q23.2-23.3		 uncertain significance
GRCh37/hg19 16q23.2(chr16:81159405-81299589)x1 copy number loss not provided [RCV001834364] Chr16:81159405..81299589 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:80976347-81647826) copy number gain not specified [RCV002052550] Chr16:80976347..81647826 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.1-23.2(chr16:77960664-81429258) copy number loss not specified [RCV002052545] Chr16:77960664..81429258 [GRCh37]
Chr16:16q23.1-23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:80228506-81280700) copy number gain not specified [RCV002052547] Chr16:80228506..81280700 [GRCh37]
Chr16:16q23.2		 uncertain significance
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
NM_017429.3(BCO1):c.496G>A (p.Val166Ile) single nucleotide variant not specified [RCV004312526] Chr16:81264664 [GRCh38]
Chr16:81298269 [GRCh37]
Chr16:16q23.2		 likely benign
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_017429.3(BCO1):c.928G>A (p.Val310Ile) single nucleotide variant not specified [RCV004290961] Chr16:81270243 [GRCh38]
Chr16:81303848 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:81188539-81362574)x1 copy number loss not provided [RCV002474790] Chr16:81188539..81362574 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:81254705-81314187)x1 copy number loss not provided [RCV002473870] Chr16:81254705..81314187 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.533C>T (p.Ala178Val) single nucleotide variant not specified [RCV004244135] Chr16:81264701 [GRCh38]
Chr16:81298306 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.935C>G (p.Ala312Gly) single nucleotide variant not specified [RCV004231181] Chr16:81270250 [GRCh38]
Chr16:81303855 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.326C>G (p.Ala109Gly) single nucleotide variant not specified [RCV004112279] Chr16:81262138 [GRCh38]
Chr16:81295743 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1355A>G (p.Asp452Gly) single nucleotide variant not specified [RCV004104153] Chr16:81287347 [GRCh38]
Chr16:81320952 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.258C>G (p.Asn86Lys) single nucleotide variant not specified [RCV004149849] Chr16:81259740 [GRCh38]
Chr16:81293345 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.482G>A (p.Arg161His) single nucleotide variant not specified [RCV004169020] Chr16:81264650 [GRCh38]
Chr16:81298255 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1619A>C (p.Asp540Ala) single nucleotide variant not specified [RCV004119407] Chr16:81290552 [GRCh38]
Chr16:81324157 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1093G>A (p.Val365Met) single nucleotide variant not specified [RCV004172781] Chr16:81270408 [GRCh38]
Chr16:81304013 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.568G>A (p.Glu190Lys) single nucleotide variant not specified [RCV004199324] Chr16:81264736 [GRCh38]
Chr16:81298341 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.598A>G (p.Lys200Glu) single nucleotide variant not specified [RCV004197278] Chr16:81264766 [GRCh38]
Chr16:81298371 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.829C>T (p.His277Tyr) single nucleotide variant not specified [RCV004149099] Chr16:81268117 [GRCh38]
Chr16:81301722 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1372C>T (p.Pro458Ser) single nucleotide variant not specified [RCV004177952] Chr16:81287364 [GRCh38]
Chr16:81320969 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.796C>T (p.Arg266Trp) single nucleotide variant not specified [RCV004181223] Chr16:81268084 [GRCh38]
Chr16:81301689 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1055C>T (p.Ser352Leu) single nucleotide variant not specified [RCV004092210] Chr16:81270370 [GRCh38]
Chr16:81303975 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1528C>T (p.His510Tyr) single nucleotide variant not specified [RCV004103900] Chr16:81290461 [GRCh38]
Chr16:81324066 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.521A>G (p.His174Arg) single nucleotide variant not specified [RCV004117984] Chr16:81264689 [GRCh38]
Chr16:81298294 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1372C>A (p.Pro458Thr) single nucleotide variant not specified [RCV004095595] Chr16:81287364 [GRCh38]
Chr16:81320969 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1151C>T (p.Thr384Met) single nucleotide variant not specified [RCV004274309] Chr16:81280906 [GRCh38]
Chr16:81314511 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.27G>C (p.Arg9Ser) single nucleotide variant not specified [RCV004258642] Chr16:81238935 [GRCh38]
Chr16:81272540 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.800G>A (p.Arg267Lys) single nucleotide variant not specified [RCV004260539] Chr16:81268088 [GRCh38]
Chr16:81301693 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1111G>T (p.Val371Leu) single nucleotide variant not specified [RCV004250444] Chr16:81280866 [GRCh38]
Chr16:81314471 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.450G>C (p.Gln150His) single nucleotide variant not specified [RCV004276987] Chr16:81262262 [GRCh38]
Chr16:81295867 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000) copy number loss CMIP-related neurodevelopmental disorder [RCV003448630] Chr16:79568000..83552000 [GRCh38]
Chr16:16q23.2-23.3		 likely pathogenic
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
GRCh37/hg19 16q23.2(chr16:80891387-81346417)x3 copy number gain not provided [RCV003485129] Chr16:80891387..81346417 [GRCh37]
Chr16:16q23.2		 uncertain significance
GRCh37/hg19 16q23.2(chr16:80986532-81647826)x3 copy number gain not specified [RCV003987176] Chr16:80986532..81647826 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1198C>G (p.Leu400Val) single nucleotide variant not specified [RCV004418897] Chr16:81280953 [GRCh38]
Chr16:81314558 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.425A>G (p.Asn142Ser) single nucleotide variant Hereditary hypercarotenemia and vitamin A deficiency [RCV003989218] Chr16:81262237 [GRCh38]
Chr16:81295842 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.106G>A (p.Gly36Arg) single nucleotide variant not specified [RCV004418895] Chr16:81245516 [GRCh38]
Chr16:81279121 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1353C>A (p.Asp451Glu) single nucleotide variant not specified [RCV004418898] Chr16:81287345 [GRCh38]
Chr16:81320950 [GRCh37]
Chr16:16q23.2		 likely benign
NM_017429.3(BCO1):c.958G>A (p.Val320Met) single nucleotide variant not specified [RCV004418902] Chr16:81270273 [GRCh38]
Chr16:81303878 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1394G>T (p.Gly465Val) single nucleotide variant not specified [RCV004418899] Chr16:81287386 [GRCh38]
Chr16:81320991 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.713G>C (p.Ser238Thr) single nucleotide variant not specified [RCV004418900] Chr16:81268001 [GRCh38]
Chr16:81301606 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1082T>C (p.Val361Ala) single nucleotide variant not specified [RCV004418896] Chr16:81270397 [GRCh38]
Chr16:81304002 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1023C>G (p.Asn341Lys) single nucleotide variant not specified [RCV004418894] Chr16:81270338 [GRCh38]
Chr16:81303943 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.481C>T (p.Arg161Cys) single nucleotide variant BCO1-related disorder [RCV003907052] Chr16:81264649 [GRCh38]
Chr16:81298254 [GRCh37]
Chr16:16q23.2		 likely benign
NM_017429.3(BCO1):c.1102-10A>G single nucleotide variant BCO1-related disorder [RCV003931891] Chr16:81280847 [GRCh38]
Chr16:81314452 [GRCh37]
Chr16:16q23.2		 likely benign
NM_017429.3(BCO1):c.75A>T (p.Pro25=) single nucleotide variant BCO1-related disorder [RCV003952279] Chr16:81245485 [GRCh38]
Chr16:81279090 [GRCh37]
Chr16:16q23.2		 likely benign
NM_017429.3(BCO1):c.156C>T (p.Asp52=) single nucleotide variant BCO1-related disorder [RCV003981757] Chr16:81245566 [GRCh38]
Chr16:81279171 [GRCh37]
Chr16:16q23.2		 likely benign
NM_017429.3(BCO1):c.495G>A (p.Ala165=) single nucleotide variant BCO1-related disorder [RCV003899358] Chr16:81264663 [GRCh38]
Chr16:81298268 [GRCh37]
Chr16:16q23.2		 likely benign
NM_017429.3(BCO1):c.950G>A (p.Gly317Asp) single nucleotide variant BCO1-related disorder [RCV003942131]|not specified [RCV004369814] Chr16:81270265 [GRCh38]
Chr16:81303870 [GRCh37]
Chr16:16q23.2		 likely benign|uncertain significance
NC_000016.9:g.(?_78420737)_(81991603_?)del deletion Developmental and epileptic encephalopathy, 1 [RCV004582743] Chr16:78420737..81991603 [GRCh37]
Chr16:16q23.1-23.3		 pathogenic
NM_017429.3(BCO1):c.212G>A (p.Ser71Asn) single nucleotide variant not specified [RCV004605896] Chr16:81259694 [GRCh38]
Chr16:81293299 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.149G>T (p.Trp50Leu) single nucleotide variant not specified [RCV004605895] Chr16:81245559 [GRCh38]
Chr16:81279164 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.412A>G (p.Thr138Ala) single nucleotide variant not specified [RCV004605894] Chr16:81262224 [GRCh38]
Chr16:81295829 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_017429.3(BCO1):c.1387G>A (p.Ala463Thr) single nucleotide variant not specified [RCV004607020] Chr16:81287379 [GRCh38]
Chr16:81320984 [GRCh37]
Chr16:16q23.2		 likely benign
NM_017429.3(BCO1):c.797G>A (p.Arg266Gln) single nucleotide variant not specified [RCV004605893] Chr16:81268085 [GRCh38]
Chr16:81301690 [GRCh37]
Chr16:16q23.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1263
Count of miRNA genes:761
Interacting mature miRNAs:868
Transcripts:ENST00000258168, ENST00000425577, ENST00000563804, ENST00000564552
Prediction methods:Miranda, Rnahybrid
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
407369695GWAS1018671_Hacute myeloid leukemia QTL GWAS1018671 (human)4e-12acute myeloid leukemia168126128881261289Human
407369694GWAS1018670_Hacute myeloid leukemia QTL GWAS1018670 (human)6e-16acute myeloid leukemia168126128881261289Human
407023902GWAS672878_Hinterleukin-1 beta measurement QTL GWAS672878 (human)0.0000005interleukin-1 beta measurement168127015481270155Human

Markers in Region
BCMO1_4442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371681,323,954 - 81,324,817UniSTSGRCh37
Build 361679,881,455 - 79,882,318RGDNCBI36
Celera1665,621,239 - 65,622,102RGD
HuRef1667,079,132 - 67,079,995UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF294900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000258168   ⟹   ENSP00000258168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1681,238,689 - 81,291,142 (+)Ensembl
Ensembl Acc Id: ENST00000563804   ⟹   ENSP00000457910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1681,238,689 - 81,290,700 (+)Ensembl
Ensembl Acc Id: ENST00000564552   ⟹   ENSP00000455219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1681,238,691 - 81,262,543 (+)Ensembl
RefSeq Acc Id: NM_017429   ⟹   NP_059125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381681,238,689 - 81,291,142 (+)NCBI
GRCh371681,272,176 - 81,324,747 (+)NCBI
Build 361679,829,797 - 79,882,248 (+)NCBI Archive
HuRef1667,027,575 - 67,079,925 (+)ENTREZGENE
CHM1_11682,683,655 - 82,736,052 (+)NCBI
T2T-CHM13v2.01687,299,473 - 87,351,905 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523109   ⟹   XP_011521411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381681,238,689 - 81,291,142 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023286   ⟹   XP_016878775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381681,238,689 - 81,291,142 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023287   ⟹   XP_016878776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381681,238,689 - 81,291,142 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023288   ⟹   XP_016878777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381681,238,689 - 81,287,397 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023289   ⟹   XP_016878778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381681,264,663 - 81,291,142 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434214   ⟹   XP_047290170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381681,238,689 - 81,270,367 (+)NCBI
RefSeq Acc Id: XM_054380471   ⟹   XP_054236446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01687,299,473 - 87,351,905 (+)NCBI
RefSeq Acc Id: XM_054380472   ⟹   XP_054236447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01687,299,473 - 87,351,905 (+)NCBI
RefSeq Acc Id: XM_054380473   ⟹   XP_054236448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01687,299,473 - 87,351,905 (+)NCBI
RefSeq Acc Id: XM_054380474   ⟹   XP_054236449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01687,299,473 - 87,348,169 (+)NCBI
RefSeq Acc Id: XM_054380475   ⟹   XP_054236450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01687,325,512 - 87,351,905 (+)NCBI
RefSeq Acc Id: XM_054380476   ⟹   XP_054236451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01687,299,473 - 87,331,176 (+)NCBI
RefSeq Acc Id: NP_059125   ⟸   NM_017429
- UniProtKB: A0AV50 (UniProtKB/Swiss-Prot),   A0AV48 (UniProtKB/Swiss-Prot),   Q9NVH5 (UniProtKB/Swiss-Prot),   Q9HAY6 (UniProtKB/Swiss-Prot),   B4DJC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521411   ⟸   XM_011523109
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016878776   ⟸   XM_017023287
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016878775   ⟸   XM_017023286
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016878777   ⟸   XM_017023288
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016878778   ⟸   XM_017023289
- Peptide Label: isoform X5
- Sequence:
Ensembl Acc Id: ENSP00000258168   ⟸   ENST00000258168
Ensembl Acc Id: ENSP00000457910   ⟸   ENST00000563804
Ensembl Acc Id: ENSP00000455219   ⟸   ENST00000564552
RefSeq Acc Id: XP_047290170   ⟸   XM_047434214
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054236448   ⟸   XM_054380473
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054236447   ⟸   XM_054380472
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236446   ⟸   XM_054380471
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236449   ⟸   XM_054380474
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054236451   ⟸   XM_054380476
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054236450   ⟸   XM_054380475
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HAY6-F1-model_v2 AlphaFold Q9HAY6 1-547 view protein structure

Promoters
RGD ID:6792853
Promoter ID:HG_KWN:24335
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000269056,   UC002FGM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361679,829,591 - 79,830,091 (+)MPROMDB
RGD ID:7232953
Promoter ID:EPDNEW_H22222
Type:initiation region
Name:BCO1_1
Description:beta-carotene oxygenase 1
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
GRCh381681,238,691 - 81,238,751EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13815 AgrOrtholog
COSMIC BCO1 COSMIC
Ensembl Genes ENSG00000135697 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000258168 ENTREZGENE
  ENST00000258168.7 UniProtKB/Swiss-Prot
  ENST00000563804.5 UniProtKB/TrEMBL
  ENST00000564552.1 UniProtKB/TrEMBL
GTEx ENSG00000135697 GTEx
HGNC ID HGNC:13815 ENTREZGENE
Human Proteome Map BCO1 Human Proteome Map
InterPro Carotenoid_Oase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:53630 UniProtKB/Swiss-Prot
NCBI Gene 53630 ENTREZGENE
OMIM 605748 OMIM
PANTHER BETA,BETA-CAROTENE 15,15'-DIOXYGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10543 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RPE65 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37812 PharmGKB
UniProt A0AV48 ENTREZGENE
  A0AV50 ENTREZGENE
  B4DJC0 ENTREZGENE, UniProtKB/TrEMBL
  BCDO1_HUMAN UniProtKB/Swiss-Prot
  H3BPA2_HUMAN UniProtKB/TrEMBL
  H3BV18_HUMAN UniProtKB/TrEMBL
  Q9HAY6 ENTREZGENE
  Q9NVH5 ENTREZGENE
UniProt Secondary A0AV48 UniProtKB/Swiss-Prot
  A0AV50 UniProtKB/Swiss-Prot
  Q9NVH5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-07-23 BCO1  beta-carotene oxygenase 1  BCMO1  beta-carotene 15,15'-monooxygenase 1  Symbol and/or name change 5135510 APPROVED