Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | 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. |
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 |
BCO1 (Homo sapiens - human) |
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Bco1 (Mus musculus - house mouse) |
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Bco1 (Rattus norvegicus - Norway rat) |
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Bco1 (Chinchilla lanigera - long-tailed chinchilla) |
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BCO1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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BCO1 (Canis lupus familiaris - dog) |
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Bco1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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BCO1 (Sus scrofa - pig) |
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BCO1 (Chlorocebus sabaeus - green monkey) |
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Bco1 (Heterocephalus glaber - naked mole-rat) |
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Variants in BCO1
63 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_017429.3(BCO1):c.509C>T (p.Thr170Met) | single nucleotide variant | 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 | Ductal breast carcinoma [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 | Ductal breast carcinoma [RCV000207182] | Chr16:72107834..90142285 [GRCh37] Chr16:16q22.2-24.3 |
uncertain significance |
Single allele | complex | Ductal breast carcinoma [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 | Inborn genetic diseases [RCV003253507] | 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 | Inborn genetic diseases [RCV003262780] | 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 | not provided [RCV000954299] | Chr16:81290348 [GRCh38] Chr16:81323953 [GRCh37] Chr16:16q23.2 |
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 | Inborn genetic diseases [RCV003269965] | 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 | 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 [RCV001987216] | 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 | Inborn genetic diseases [RCV003276237] | 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 | Inborn genetic diseases [RCV003264641] | 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 | Inborn genetic diseases [RCV002779561] | Chr16:81264701 [GRCh38] Chr16:81298306 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.935C>G (p.Ala312Gly) | single nucleotide variant | Inborn genetic diseases [RCV002734121] | Chr16:81270250 [GRCh38] Chr16:81303855 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.326C>G (p.Ala109Gly) | single nucleotide variant | Inborn genetic diseases [RCV002758368] | Chr16:81262138 [GRCh38] Chr16:81295743 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.1355A>G (p.Asp452Gly) | single nucleotide variant | Inborn genetic diseases [RCV002762395] | Chr16:81287347 [GRCh38] Chr16:81320952 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.258C>G (p.Asn86Lys) | single nucleotide variant | Inborn genetic diseases [RCV002868599] | Chr16:81259740 [GRCh38] Chr16:81293345 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.482G>A (p.Arg161His) | single nucleotide variant | Inborn genetic diseases [RCV002911411] | Chr16:81264650 [GRCh38] Chr16:81298255 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.1619A>C (p.Asp540Ala) | single nucleotide variant | Inborn genetic diseases [RCV002797559] | Chr16:81290552 [GRCh38] Chr16:81324157 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.1093G>A (p.Val365Met) | single nucleotide variant | Inborn genetic diseases [RCV002925126] | Chr16:81270408 [GRCh38] Chr16:81304013 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.568G>A (p.Glu190Lys) | single nucleotide variant | Inborn genetic diseases [RCV002980953] | Chr16:81264736 [GRCh38] Chr16:81298341 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.598A>G (p.Lys200Glu) | single nucleotide variant | Inborn genetic diseases [RCV002952083] | Chr16:81264766 [GRCh38] Chr16:81298371 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.829C>T (p.His277Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002874374] | Chr16:81268117 [GRCh38] Chr16:81301722 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.1372C>T (p.Pro458Ser) | single nucleotide variant | Inborn genetic diseases [RCV002954893] | Chr16:81287364 [GRCh38] Chr16:81320969 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.796C>T (p.Arg266Trp) | single nucleotide variant | Inborn genetic diseases [RCV002955965] | Chr16:81268084 [GRCh38] Chr16:81301689 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.1055C>T (p.Ser352Leu) | single nucleotide variant | Inborn genetic diseases [RCV002712758] | Chr16:81270370 [GRCh38] Chr16:81303975 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.1528C>T (p.His510Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002742825] | Chr16:81290461 [GRCh38] Chr16:81324066 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.521A>G (p.His174Arg) | single nucleotide variant | Inborn genetic diseases [RCV002808264] | Chr16:81264689 [GRCh38] Chr16:81298294 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.1372C>A (p.Pro458Thr) | single nucleotide variant | Inborn genetic diseases [RCV002702883] | Chr16:81287364 [GRCh38] Chr16:81320969 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.1151C>T (p.Thr384Met) | single nucleotide variant | Inborn genetic diseases [RCV003201133] | Chr16:81280906 [GRCh38] Chr16:81314511 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.27G>C (p.Arg9Ser) | single nucleotide variant | Inborn genetic diseases [RCV003197166] | Chr16:81238935 [GRCh38] Chr16:81272540 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.800G>A (p.Arg267Lys) | single nucleotide variant | Inborn genetic diseases [RCV003185592] | Chr16:81268088 [GRCh38] Chr16:81301693 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.1111G>T (p.Val371Leu) | single nucleotide variant | Inborn genetic diseases [RCV003173622] | Chr16:81280866 [GRCh38] Chr16:81314471 [GRCh37] Chr16:16q23.2 |
uncertain significance |
NM_017429.3(BCO1):c.450G>C (p.Gln150His) | single nucleotide variant | Inborn genetic diseases [RCV003205443] | 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 |
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. |
BCMO1_4442 |
|
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 | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 29 | 4 | 3 | 18 | 3 | 8 | 48 | 17 | 6 | |||||||
Low | 1264 | 2 | 502 | 281 | 473 | 176 | 585 | 150 | 1145 | 284 | 918 | 263 | 110 | 34 | 315 | 2 |
Below cutoff | 1092 | 1219 | 978 | 308 | 326 | 255 | 2830 | 1597 | 2397 | 52 | 475 | 1172 | 59 | 897 | 1811 | 2 |
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 |
RefSeq Acc Id: | ENST00000258168 ⟹ ENSP00000258168 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000563804 ⟹ ENSP00000457910 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000564552 ⟹ ENSP00000455219 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_017429 ⟹ NP_059125 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011523109 ⟹ XP_011521411 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_017023286 ⟹ XP_016878775 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_017023287 ⟹ XP_016878776 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_017023288 ⟹ XP_016878777 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_017023289 ⟹ XP_016878778 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047434214 ⟹ XP_047290170 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054380471 ⟹ XP_054236446 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054380472 ⟹ XP_054236447 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054380473 ⟹ XP_054236448 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054380474 ⟹ XP_054236449 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054380475 ⟹ XP_054236450 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054380476 ⟹ XP_054236451 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_059125 | (Get FASTA) | NCBI Sequence Viewer |
XP_011521411 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016878775 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016878776 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016878777 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016878778 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047290170 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054236446 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054236447 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054236448 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054236449 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054236450 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054236451 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAG15380 | (Get FASTA) | NCBI Sequence Viewer |
AAI26211 | (Get FASTA) | NCBI Sequence Viewer | |
AAI26213 | (Get FASTA) | NCBI Sequence Viewer | |
BAA91776 | (Get FASTA) | NCBI Sequence Viewer | |
BAG58782 | (Get FASTA) | NCBI Sequence Viewer | |
EAW95537 | (Get FASTA) | NCBI Sequence Viewer | |
EAW95538 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000258168 | ||
ENSP00000258168.2 | |||
ENSP00000455219.1 | |||
ENSP00000457910.1 | |||
GenBank Protein | Q9HAY6 | (Get FASTA) | NCBI Sequence Viewer |
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: |
RefSeq Acc Id: | ENSP00000258168 ⟸ ENST00000258168 |
RefSeq Acc Id: | ENSP00000457910 ⟸ ENST00000563804 |
RefSeq 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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9HAY6-F1-model_v2 | AlphaFold | Q9HAY6 | 1-547 | view protein structure |
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: |
|
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: |
|
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 |
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 |