ENST00000392663.6 BBS5

Information
Transcript ID
ENST00000392663.6
Genome
hg38
Position
chr2:169,479,483-169,506,655
Strand
+
CDS length
963
Amino acid length
321
Gene symbol
BBS5
Gene type
protein-coding
Gene description
Bardet-Biedl syndrome 5
Gene Entrez Gene ID
129880
Variants

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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
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Target data :
MGeND data only
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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
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Target data :
MGeND data only
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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
1 169,479,483 169,479,612
2 169,482,251 169,482,333
3 169,487,069 169,487,134
4 169,487,806 169,487,855
5 169,487,987 169,488,114
6 169,492,874 169,493,009
7 169,493,741 169,493,836
8 169,499,486 169,499,620
9 169,503,095 169,503,178
10 169,504,303 169,504,326
11 169,504,481 169,506,655
CDS
Exon number Type Start Stop
1 CDS 169,479,554 169,479,612
2 CDS 169,482,251 169,482,333
3 CDS 169,487,069 169,487,134
4 CDS 169,487,806 169,487,855
5 CDS 169,487,987 169,488,114
6 CDS 169,492,874 169,493,009
7 CDS 169,493,741 169,493,836
8 CDS 169,499,486 169,499,620
9 CDS 169,503,095 169,503,178
10 CDS 169,504,303 169,504,326
11 CDS 169,504,481 169,504,582
Other genome
Genome Chromosome Start End Links
hg19 chr2 170,335,993 170,363,165 Link
CDS sequence
ATGTCGGTGCTGGATGCGCTTTGGGAGGATCGGGATGTCCGTTTCGACCTGTCCGCGCAGCAAATGAAAACAAGACCTGGAGAAGTCCTTATTGATTGTTTAGATTCCATTGAAGACACCAAAGGAAATAATGGAGATAGAGGTAGACTCTTGGTAACAAATTTAAGAATTCTCTGGCACTCTTTGGCATTATCAAGAGTCAATGTTTCTGTCGGTTACAATTGCATATTGAATATTACAACAAGGACTGCTAACTCTAAATTACGAGGCCAAACTGAAGCTCTCTATATACTAACAAAATGTAACAGTACTCGTTTTGAATTTATATTTACAAATTTGGTTCCTGGAAGCCCTAGACTTTTTACTTCTGTGATGGCAGTACACAGAGCTTATGAAACTTCTAAAATGTATCGTGATTTTAAATTAAGAAGTGCACTAATTCAGAACAAGCAACTAAGACTGTTGCCACAAGAACATGTATATGATAAAATAAATGGAGTTTGGAATTTATCCAGTGATCAGGGCAATTTAGGAACCTTTTTTATTACCAATGTGAGAATTGTGTGGCATGCAAATATGAATGATAGTTTTAATGTCAGTATACCATATCTGCAAATTAGTGGTGGATATGTTCTTGGCTTTAAAATAGATCCTGTGGAAAAACTACAAGAATCAGTTAAGGAAATCAATTCACTTCACAAAGTCTATTCTGCCAGTCCCATATTTGGAGTTGATTATGAGATGGAAGAAAAGCCCCAGCCGCTCGAAGCTCTGACAGTCGAACAAATTCAAGATGATGTAGAAATAGACTCTGATGGTCACACGGATGCTTTTGTGGCTTATTTTGCTGATGGCAATAAGCAACAAGATCGTGAACCTGTATTTTCAGAAGAACTGGGGCTTGCAATAGAGAAATTGAAGGATGGATTCACCCTACAGGGACTTTGGGAAGTAATGAGTTGA
Amino sequence
MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNNGDRGRLLVTNLRILWHSLALSRVNVSVGYNCILNITTRTANSKLRGQTEALYILTKCNSTRFEFIFTNLVPGSPRLFTSVMAVHRAYETSKMYRDFKLRSALIQNKQLRLLPQEHVYDKINGVWNLSSDQGNLGTFFITNVRIVWHANMNDSFNVSIPYLQISGGYVLGFKIDPVEKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPLEALTVEQIQDDVEIDSDGHTDAFVAYFADGNKQQDREPVFSEELGLAIEKLKDGFTLQGLWEVMS*