Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BEST3 | Human | aortic dissection | | ISS | Best3 (Mus musculus) | 13592920 | | MouseDO | | |
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Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BEST3 | Human | aortic dissection | | ISS | Best3 (Mus musculus) | 13592920 | | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:9700209 | PMID:12032738 | PMID:12477932 | PMID:12907679 | PMID:14702039 | PMID:15342556 | PMID:15489334 | PMID:16344560 | PMID:17442670 | PMID:19237432 | PMID:21873635 | PMID:22863734 |
PMID:25329324 | PMID:30849546 | PMID:32296183 |
BEST3 (Homo sapiens - human) |
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Best3 (Mus musculus - house mouse) |
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Best3 (Rattus norvegicus - Norway rat) |
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Best3 (Chinchilla lanigera - long-tailed chinchilla) |
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BEST3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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BEST3 (Canis lupus familiaris - dog) |
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Best3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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BEST3 (Sus scrofa - pig) |
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BEST3 (Chlorocebus sabaeus - green monkey) |
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Best3 (Heterocephalus glaber - naked mole-rat) |
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Variants in BEST3
42 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_032735.2(BEST3):c.1823C>T (p.Pro608Leu) | single nucleotide variant | Malignant melanoma [RCV000062589] | Chr12:69655091 [GRCh38] Chr12:70048871 [GRCh37] Chr12:68335138 [NCBI36] Chr12:12q15 |
not provided |
GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1 | copy number loss | See cases [RCV000135587] | Chr12:68011417..75383054 [GRCh38] Chr12:68405197..75776834 [GRCh37] Chr12:66691464..74063101 [NCBI36] Chr12:12q15-21.2 |
likely pathogenic|uncertain significance |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 | copy number gain | See cases [RCV000139555] | Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1 | copy number loss | See cases [RCV000142445] | Chr12:65445176..71026337 [GRCh38] Chr12:65838956..71420117 [GRCh37] Chr12:64125223..69706384 [NCBI36] Chr12:12q14.3-15 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 | copy number gain | See cases [RCV000258805] | Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
GRCh37/hg19 12q14.1-15(chr12:59495114-70574966)x1 | copy number loss | See cases [RCV000447164] | Chr12:59495114..70574966 [GRCh37] Chr12:12q14.1-15 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 | copy number gain | See cases [RCV000510482] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) | copy number gain | See cases [RCV000511643] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 | copy number gain | not provided [RCV000750253] | Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 | copy number loss | not provided [RCV000737927] | Chr12:69608090..89629345 [GRCh37] Chr12:12q15-21.33 |
pathogenic |
GRCh37/hg19 12q15(chr12:70005534-70122623)x3 | copy number gain | not provided [RCV000737932] | Chr12:70005534..70122623 [GRCh37] Chr12:12q15 |
benign |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 | copy number gain | not provided [RCV000750246] | Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_032735.3(BEST3):c.1130A>G (p.Glu377Gly) | single nucleotide variant | not specified [RCV004333136] | Chr12:69655784 [GRCh38] Chr12:70049564 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_001282614.2(BEST3):c.1148C>T (p.Pro383Leu) | single nucleotide variant | not provided [RCV001621663] | Chr12:69643740 [GRCh38] Chr12:70037520 [GRCh37] Chr12:12q15 |
benign |
NM_032735.3(BEST3):c.147A>G (p.Val49=) | single nucleotide variant | not provided [RCV001678805] | Chr12:69697652 [GRCh38] Chr12:70091432 [GRCh37] Chr12:12q15 |
benign |
GRCh37/hg19 12q15(chr12:68572386-70833868)x1 | copy number loss | not provided [RCV001259617] | Chr12:68572386..70833868 [GRCh37] Chr12:12q15 |
pathogenic |
GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1 | copy number loss | not provided [RCV001537907] | Chr12:65251705..75263379 [GRCh37] Chr12:12q14.3-21.1 |
pathogenic |
GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1 | copy number loss | not provided [RCV001834178] | Chr12:70084476..77065764 [GRCh37] Chr12:12q15-21.2 |
pathogenic |
NM_032735.3(BEST3):c.178C>T (p.Arg60Cys) | single nucleotide variant | not specified [RCV004299854] | Chr12:69694439 [GRCh38] Chr12:70088219 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1766G>A (p.Arg589Lys) | single nucleotide variant | not specified [RCV004321742] | Chr12:69655148 [GRCh38] Chr12:70048928 [GRCh37] Chr12:12q15 |
uncertain significance |
Single allele | duplication | not provided [RCV002275643] | Chr12:69331823..69683009 [GRCh38] Chr12:12q15 |
uncertain significance |
GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1 | copy number loss | not provided [RCV002511748] | Chr12:64609458..70352103 [GRCh37] Chr12:12q14.2-15 |
pathogenic |
NM_032735.3(BEST3):c.1501C>T (p.Pro501Ser) | single nucleotide variant | not specified [RCV004147448] | Chr12:69655413 [GRCh38] Chr12:70049193 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1018G>A (p.Asp340Asn) | single nucleotide variant | not specified [RCV004139907] | Chr12:69671510 [GRCh38] Chr12:70065290 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.633G>T (p.Met211Ile) | single nucleotide variant | not specified [RCV004192230] | Chr12:69678742 [GRCh38] Chr12:70072522 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1125C>A (p.Asp375Glu) | single nucleotide variant | not specified [RCV004114165] | Chr12:69655789 [GRCh38] Chr12:70049569 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.489G>A (p.Met163Ile) | single nucleotide variant | not specified [RCV004110938] | Chr12:69678886 [GRCh38] Chr12:70072666 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.109A>G (p.Ile37Val) | single nucleotide variant | not specified [RCV004178233] | Chr12:69697690 [GRCh38] Chr12:70091470 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.587G>A (p.Arg196Gln) | single nucleotide variant | not specified [RCV004158541] | Chr12:69678788 [GRCh38] Chr12:70072568 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1864G>A (p.Glu622Lys) | single nucleotide variant | not specified [RCV004107081] | Chr12:69655050 [GRCh38] Chr12:70048830 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1511T>C (p.Leu504Ser) | single nucleotide variant | not specified [RCV004201366] | Chr12:69655403 [GRCh38] Chr12:70049183 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.352G>A (p.Asp118Asn) | single nucleotide variant | not specified [RCV004205093] | Chr12:69693803 [GRCh38] Chr12:70087583 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1604A>C (p.Gln535Pro) | single nucleotide variant | not specified [RCV004174637] | Chr12:69655310 [GRCh38] Chr12:70049090 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1031G>A (p.Arg344His) | single nucleotide variant | not specified [RCV004097563] | Chr12:69671497 [GRCh38] Chr12:70065277 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.458C>A (p.Thr153Lys) | single nucleotide variant | not specified [RCV004212342] | Chr12:69693697 [GRCh38] Chr12:70087477 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.254A>C (p.Tyr85Ser) | single nucleotide variant | not specified [RCV004093727] | Chr12:69693901 [GRCh38] Chr12:70087681 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1327C>G (p.Pro443Ala) | single nucleotide variant | not specified [RCV004215711] | Chr12:69655587 [GRCh38] Chr12:70049367 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1130A>C (p.Glu377Ala) | single nucleotide variant | not specified [RCV004096232] | Chr12:69655784 [GRCh38] Chr12:70049564 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.355G>A (p.Glu119Lys) | single nucleotide variant | not specified [RCV004260761] | Chr12:69693800 [GRCh38] Chr12:70087580 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.2000C>T (p.Pro667Leu) | single nucleotide variant | not specified [RCV004284927] | Chr12:69654914 [GRCh38] Chr12:70048694 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1207G>A (p.Glu403Lys) | single nucleotide variant | not specified [RCV004273925] | Chr12:69655707 [GRCh38] Chr12:70049487 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1970T>C (p.Ile657Thr) | single nucleotide variant | not specified [RCV004262363] | Chr12:69654944 [GRCh38] Chr12:70048724 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1599G>T (p.Gly533=) | single nucleotide variant | not provided [RCV003398183] | Chr12:69655315 [GRCh38] Chr12:70049095 [GRCh37] Chr12:12q15 |
likely benign |
NM_032735.3(BEST3):c.1644C>T (p.Ser548=) | single nucleotide variant | not provided [RCV003410929] | Chr12:69655270 [GRCh38] Chr12:70049050 [GRCh37] Chr12:12q15 |
likely benign |
NM_032735.3(BEST3):c.1052C>G (p.Ala351Gly) | single nucleotide variant | not provided [RCV003740595] | Chr12:69671476 [GRCh38] Chr12:70065256 [GRCh37] Chr12:12q15 |
uncertain significance |
GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1 | copy number loss | not specified [RCV003986991] | Chr12:69498859..74073631 [GRCh37] Chr12:12q15-21.1 |
likely pathogenic |
NM_032735.3(BEST3):c.82A>G (p.Ile28Val) | single nucleotide variant | not specified [RCV004429030] | Chr12:69697717 [GRCh38] Chr12:70091497 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1624C>G (p.Gln542Glu) | single nucleotide variant | not specified [RCV004429025] | Chr12:69655290 [GRCh38] Chr12:70049070 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1636A>G (p.Met546Val) | single nucleotide variant | not specified [RCV004429026] | Chr12:69655278 [GRCh38] Chr12:70049058 [GRCh37] Chr12:12q15 |
likely benign |
NM_032735.3(BEST3):c.944T>C (p.Leu315Ser) | single nucleotide variant | not specified [RCV004429031] | Chr12:69672889 [GRCh38] Chr12:70066669 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1189C>T (p.Arg397Trp) | single nucleotide variant | not specified [RCV004429024] | Chr12:69655725 [GRCh38] Chr12:70049505 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1852T>G (p.Leu618Val) | single nucleotide variant | not specified [RCV004429027] | Chr12:69655062 [GRCh38] Chr12:70048842 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.233T>A (p.Val78Glu) | single nucleotide variant | not specified [RCV004429028] | Chr12:69694384 [GRCh38] Chr12:70088164 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1388A>G (p.His463Arg) | single nucleotide variant | not specified [RCV004600177] | Chr12:69655526 [GRCh38] Chr12:70049306 [GRCh37] Chr12:12q15 |
likely benign |
NM_032735.3(BEST3):c.1088C>T (p.Thr363Ile) | single nucleotide variant | not specified [RCV004600178] | Chr12:69671440 [GRCh38] Chr12:70065220 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1815C>A (p.Asn605Lys) | single nucleotide variant | not specified [RCV004607031] | Chr12:69655099 [GRCh38] Chr12:70048879 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1991A>C (p.Glu664Ala) | single nucleotide variant | not specified [RCV004600176] | Chr12:69654923 [GRCh38] Chr12:70048703 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.819T>C (p.Ile273=) | single nucleotide variant | not provided [RCV004722448] | Chr12:69676964 [GRCh38] Chr12:70070744 [GRCh37] Chr12:12q15 |
likely benign |
NM_032735.3(BEST3):c.1895T>C (p.Ile632Thr) | single nucleotide variant | not specified [RCV004349745] | Chr12:69655019 [GRCh38] Chr12:70048799 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_032735.3(BEST3):c.1964A>G (p.Asp655Gly) | single nucleotide variant | not specified [RCV004358748] | Chr12:69654950 [GRCh38] Chr12:70048730 [GRCh37] Chr12:12q15 |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH93788 |
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RH102802 |
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RH120549 |
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D12S1816 |
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RH44577 |
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SHGC-33073 |
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RH44642 |
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SHGC-34028 |
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A009W40 |
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G32926 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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733 | 1331 | 2366 | 1668 | 4712 | 1130 | 1498 | 3 | 343 | 1436 | 183 | 1821 | 5413 | 4598 | 31 | 3560 | 1 | 696 | 1358 | 1050 | 171 | 1 |
RefSeq Transcripts | NM_001282613 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001282614 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001282615 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001282616 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_032735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_152439 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_104220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011537961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011537962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011537963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011537965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047428376 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047428378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047428379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047428380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047428381 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047428382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047428383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371184 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371187 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC016153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC018921 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC025263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF440758 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK096459 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY515706 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC006440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC028087 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC151138 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF739974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP225850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX374313 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA767581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000266661 ⟹ ENSP00000266661 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000330891 ⟹ ENSP00000332413 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000331471 ⟹ ENSP00000329064 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000476098 ⟹ ENSP00000434713 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000488961 ⟹ ENSP00000433213 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000529843 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000533674 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000547208 ⟹ ENSP00000449868 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000548658 ⟹ ENSP00000446575 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000551160 ⟹ ENSP00000449377 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000552295 ⟹ ENSP00000447689 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000553096 ⟹ ENSP00000449548 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001282613 ⟹ NP_001269542 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001282614 ⟹ NP_001269543 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001282615 ⟹ NP_001269544 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001282616 ⟹ NP_001269545 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_032735 ⟹ NP_116124 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_152439 ⟹ NP_689652 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_104220 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011537961 ⟹ XP_011536263 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011537962 ⟹ XP_011536264 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011537963 ⟹ XP_011536265 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011537965 ⟹ XP_011536267 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047428376 ⟹ XP_047284332 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047428378 ⟹ XP_047284334 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047428379 ⟹ XP_047284335 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047428380 ⟹ XP_047284336 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047428381 ⟹ XP_047284337 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047428382 ⟹ XP_047284338 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047428383 ⟹ XP_047284339 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371184 ⟹ XP_054227159 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371185 ⟹ XP_054227160 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371186 ⟹ XP_054227161 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371187 ⟹ XP_054227162 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371188 ⟹ XP_054227163 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371189 ⟹ XP_054227164 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371190 ⟹ XP_054227165 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001269542 | (Get FASTA) | NCBI Sequence Viewer |
NP_001269543 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001269544 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001269545 | (Get FASTA) | NCBI Sequence Viewer | |
NP_116124 | (Get FASTA) | NCBI Sequence Viewer | |
NP_689652 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011536263 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011536264 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011536265 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011536267 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047284332 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047284334 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047284335 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047284336 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047284337 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047284338 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047284339 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227159 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227160 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227161 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227162 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227163 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227164 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227165 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH06440 | (Get FASTA) | NCBI Sequence Viewer |
AAM76997 | (Get FASTA) | NCBI Sequence Viewer | |
AAR99656 | (Get FASTA) | NCBI Sequence Viewer | |
BAC04797 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97232 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97233 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97234 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97235 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000266661 | ||
ENSP00000266661.4 | |||
ENSP00000329064 | |||
ENSP00000329064.4 | |||
ENSP00000332413 | |||
ENSP00000332413.5 | |||
ENSP00000433213 | |||
ENSP00000433213.1 | |||
ENSP00000434713.1 | |||
ENSP00000446575.1 | |||
ENSP00000447689.1 | |||
ENSP00000449377 | |||
ENSP00000449377.1 | |||
ENSP00000449548 | |||
ENSP00000449548.1 | |||
ENSP00000449868.1 | |||
GenBank Protein | Q8N1M1 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_116124 ⟸ NM_032735 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8NFT9 (UniProtKB/Swiss-Prot), Q8N356 (UniProtKB/Swiss-Prot), Q53YQ7 (UniProtKB/Swiss-Prot), F8VVZ2 (UniProtKB/Swiss-Prot), B5MDI8 (UniProtKB/Swiss-Prot), Q9BR80 (UniProtKB/Swiss-Prot), Q8N1M1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_689652 ⟸ NM_152439 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q8N1M1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001269543 ⟸ NM_001282614 |
- Peptide Label: | isoform 4 |
- UniProtKB: | Q8N1M1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001269542 ⟸ NM_001282613 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q8N1M1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001269544 ⟸ NM_001282615 |
- Peptide Label: | isoform 5 |
- UniProtKB: | Q8N1M1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001269545 ⟸ NM_001282616 |
- Peptide Label: | isoform 5 |
- UniProtKB: | Q8N1M1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011536265 ⟸ XM_011537963 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_011536263 ⟸ XM_011537961 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8N1M1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011536264 ⟸ XM_011537962 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_011536267 ⟸ XM_011537965 |
- Peptide Label: | isoform X4 |
- Sequence: |
Ensembl Acc Id: | ENSP00000266661 ⟸ ENST00000266661 |
Ensembl Acc Id: | ENSP00000332413 ⟸ ENST00000330891 |
Ensembl Acc Id: | ENSP00000329064 ⟸ ENST00000331471 |
Ensembl Acc Id: | ENSP00000449868 ⟸ ENST00000547208 |
Ensembl Acc Id: | ENSP00000446575 ⟸ ENST00000548658 |
Ensembl Acc Id: | ENSP00000449377 ⟸ ENST00000551160 |
Ensembl Acc Id: | ENSP00000447689 ⟸ ENST00000552295 |
Ensembl Acc Id: | ENSP00000433213 ⟸ ENST00000488961 |
Ensembl Acc Id: | ENSP00000449548 ⟸ ENST00000553096 |
Ensembl Acc Id: | ENSP00000434713 ⟸ ENST00000476098 |
RefSeq Acc Id: | XP_047284334 ⟸ XM_047428378 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047284332 ⟸ XM_047428376 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047284335 ⟸ XM_047428379 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047284336 ⟸ XM_047428380 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047284337 ⟸ XM_047428381 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047284339 ⟸ XM_047428383 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_047284338 ⟸ XM_047428382 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054227161 ⟸ XM_054371186 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054227159 ⟸ XM_054371184 |
- Peptide Label: | isoform X8 |
- UniProtKB: | Q9BR80 (UniProtKB/Swiss-Prot), Q8NFT9 (UniProtKB/Swiss-Prot), Q8N356 (UniProtKB/Swiss-Prot), Q8N1M1 (UniProtKB/Swiss-Prot), Q53YQ7 (UniProtKB/Swiss-Prot), F8VVZ2 (UniProtKB/Swiss-Prot), B5MDI8 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054227163 ⟸ XM_054371188 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054227160 ⟸ XM_054371185 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054227164 ⟸ XM_054371189 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054227162 ⟸ XM_054371187 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054227165 ⟸ XM_054371190 |
- Peptide Label: | isoform X4 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8N1M1-F1-model_v2 | AlphaFold | Q8N1M1 | 1-668 | view protein structure |
RGD ID: | 6789716 | ||||||||
Promoter ID: | HG_KWN:16131 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3, K562, NB4 | ||||||||
Transcripts: | NM_152439 | ||||||||
Position: |
|
RGD ID: | 7224781 | ||||||||
Promoter ID: | EPDNEW_H18135 | ||||||||
Type: | initiation region | ||||||||
Name: | BEST3_2 | ||||||||
Description: | bestrophin 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H18136 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7224779 | ||||||||
Promoter ID: | EPDNEW_H18136 | ||||||||
Type: | initiation region | ||||||||
Name: | BEST3_1 | ||||||||
Description: | bestrophin 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H18135 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:17105 | AgrOrtholog |
COSMIC | BEST3 | COSMIC |
Ensembl Genes | ENSG00000127325 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000266661 | ENTREZGENE |
ENST00000266661.8 | UniProtKB/Swiss-Prot | |
ENST00000330891 | ENTREZGENE | |
ENST00000330891.10 | UniProtKB/Swiss-Prot | |
ENST00000331471 | ENTREZGENE | |
ENST00000331471.8 | UniProtKB/Swiss-Prot | |
ENST00000476098.5 | UniProtKB/TrEMBL | |
ENST00000488961 | ENTREZGENE | |
ENST00000488961.5 | UniProtKB/Swiss-Prot | |
ENST00000547208.5 | UniProtKB/TrEMBL | |
ENST00000548658.1 | UniProtKB/TrEMBL | |
ENST00000551160 | ENTREZGENE | |
ENST00000551160.5 | UniProtKB/Swiss-Prot | |
ENST00000552295.5 | UniProtKB/TrEMBL | |
ENST00000553096 | ENTREZGENE | |
ENST00000553096.5 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000127325 | GTEx |
HGNC ID | HGNC:17105 | ENTREZGENE |
Human Proteome Map | BEST3 | Human Proteome Map |
InterPro | Bestrophin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Bestrophin/UPF0187 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:144453 | UniProtKB/Swiss-Prot |
NCBI Gene | 144453 | ENTREZGENE |
OMIM | 607337 | OMIM |
PANTHER | BESTROPHIN HOMOLOG | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot |
PTHR10736 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Bestrophin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA162377503 | PharmGKB |
UniProt | B5MDI8 | ENTREZGENE |
BEST3_HUMAN | UniProtKB/Swiss-Prot | |
E9PNM2_HUMAN | UniProtKB/TrEMBL | |
F8VR37_HUMAN | UniProtKB/TrEMBL | |
F8VVX2_HUMAN | UniProtKB/TrEMBL | |
F8VVZ2 | ENTREZGENE | |
F8VZR0_HUMAN | UniProtKB/TrEMBL | |
Q53YQ7 | ENTREZGENE | |
Q8N1M1 | ENTREZGENE | |
Q8N356 | ENTREZGENE | |
Q8NFT9 | ENTREZGENE | |
Q9BR80 | ENTREZGENE | |
UniProt Secondary | B5MDI8 | UniProtKB/Swiss-Prot |
F8VVZ2 | UniProtKB/Swiss-Prot | |
Q53YQ7 | UniProtKB/Swiss-Prot | |
Q8N356 | UniProtKB/Swiss-Prot | |
Q8NFT9 | UniProtKB/Swiss-Prot | |
Q9BR80 | UniProtKB/Swiss-Prot |