ENST00000553096.5 BEST3

Information
Transcript ID
ENST00000553096.5
Genome
hg19
Position
chr12:70,047,599-70,093,065
Strand
-
CDS length
1,689
Amino acid length
563
Gene symbol
BEST3
Gene type
protein-coding
Gene description
bestrophin 3
Gene Entrez Gene ID
144453
Variants

Display target variant


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Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
8 70,047,599 70,049,593
7 70,065,208 70,065,359
6 70,066,665 70,066,745
5 70,070,696 70,070,848
4 70,070,960 70,071,037
3 70,072,519 70,072,673
2 70,087,454 70,087,687
1 70,092,985 70,093,065
CDS
Exon number Type Start Stop
8 CDS 70,048,687 70,049,593
7 CDS 70,065,208 70,065,359
6 CDS 70,066,665 70,066,745
5 CDS 70,070,696 70,070,848
4 CDS 70,070,960 70,071,037
3 CDS 70,072,519 70,072,673
2 CDS 70,087,454 70,087,616
Other genome
Genome Chromosome Start End Links
hg38 chr12 69,653,819 69,699,285 Link
CDS sequence
ATGTTCCTCATCTCTAGCAGTGTTCACGGAAGCGACGAGCACGGGCGCCTGCTTAGAAGGACGCTGATGCGCTACGTCAATCTCACCTCCCTGCTCATCTTTCGCTCGGTGAGCACTGCTGTGTACAAAAGATTTCCCACAATGGACCACGTGGTTGAAGCAGGTTTTATGACAACAGATGAAAGGAAATTATTCAACCACCTCAAGTCTCCTCATCTGAAATATTGGGTTCCATTCATCTGGTTTGGAAATCTTGCAACTAAAGCCCGGAATGAAGGTAGAATCAGAGACAGTGTTGATCTGCAATCATTGATGACTGAAATGAATCGATACCGCTCTTGGTGCAGCCTCTTATTCGGTTATGACTGGGTTGGGATTCCGCTGGTTTACACCCAGGTTGTCACTCTTGCTGTCTATACCTTCTTCTTTGCGTGCCTGATTGGACGCCAGTTTTTGGATCCCACCAAAGGCTACGCAGGGCATGACTTGGATCTTTACATTCCCATCTTCACCCTCCTACAATTCTTCTTCTATGCAGGATGGCTTAAGGTAGCAGAGCAGCTTATCAACCCTTTTGGAGAAGATGATGATGATTTTGAAACTAACTGGTGCATTGACAGAAATTTGCAGGTCTCTCTTTTAGCTGTGGACGAAATGCACATGAGCTTACCCAAGATGAAGAAGGACATTTACTGGGACGATTCTGCTGCTCGCCCACCATACACATTGGCAGCTGCTGACTACTGCATACCCTCATTTCTGGGGTCAACAGTCCAGATGGGGCTGTCTGGGTCCGACTTTCCTGACGAGGAGTGGCTGTGGGATTATGAGAAGCATGGCCATCGGCATTCCATGATAAGAAGAGTCAAGCGGTTCCTGAGTGCCCACGAACACCCCTCCAGCCCCAGAAGAAGAAGCTACAGGAGGCAGACAAGTGACAGCTCCATGTTCTTACCCCGAGATGACCTCAGCCCAGCCAGGGACCTACTGGATGTGCCCTCAAGAAACCCCCCCAGGGCCTCACCCACCTGGAAGAAATCCTGCTTCCCAGAAGGAAGCCCCACGCTGCACTTCAGCATGGGAGAGCTGTCCACCATCAGGGAGACCAGCCAGACAAGCACTTTACAGAGCCTGACCCCACAGTCCAGTGTGAGAACTTCCCCCATCAAAATGCCACTGGTACCTGAGGTATTGATCACAGCAGCCGAAGCACCAGTGCCCACATCAGGGGGCTACCACCATGATTCCGCTACCTCCATCTTGAGCTCTGAGTTTACAGGGGTTCAGCCAAGCAAGACTGAGCAGCAGCAGGGCCCCATGGGATCCATCCTGTCTCCCTCAGAGAAGGAGACACCTCCTGGAGGCCCCAGTCCCCAGACAGTTTCAGCCAGCGCTGAGGAAAATATATTCAACTGTGAAGAAGACCCTGGTGATACCTTTCTAAAAAGGTGGAGTCTTCCGGGATTCCTGGGGTCCAGCCACACTTCCCTGGGAAACCTAAGTCCAGACCCCATGAGCTCTCAGCCAGCTCTTTTAATTGACACAGAAACATCCTCAGAGATCAGTGGGATCAACATTGTGGCTGGCTCTCGAGTCTCTTCTGATATGCTGTATTTAATGGAAAACCTGGACACCAAGGAAACAGATATCATAGAGCTGAACAAGGAAACTGAGGAATCACCCAAATGA
Amino sequence
MFLISSSVHGSDEHGRLLRRTLMRYVNLTSLLIFRSVSTAVYKRFPTMDHVVEAGFMTTDERKLFNHLKSPHLKYWVPFIWFGNLATKARNEGRIRDSVDLQSLMTEMNRYRSWCSLLFGYDWVGIPLVYTQVVTLAVYTFFFACLIGRQFLDPTKGYAGHDLDLYIPIFTLLQFFFYAGWLKVAEQLINPFGEDDDDFETNWCIDRNLQVSLLAVDEMHMSLPKMKKDIYWDDSAARPPYTLAAADYCIPSFLGSTVQMGLSGSDFPDEEWLWDYEKHGHRHSMIRRVKRFLSAHEHPSSPRRRSYRRQTSDSSMFLPRDDLSPARDLLDVPSRNPPRASPTWKKSCFPEGSPTLHFSMGELSTIRETSQTSTLQSLTPQSSVRTSPIKMPLVPEVLITAAEAPVPTSGGYHHDSATSILSSEFTGVQPSKTEQQQGPMGSILSPSEKETPPGGPSPQTVSASAEENIFNCEEDPGDTFLKRWSLPGFLGSSHTSLGNLSPDPMSSQPALLIDTETSSEISGINIVAGSRVSSDMLYLMENLDTKETDIIELNKETEESPK*