ENST00000295240.8 BBS5

Information
Transcript ID
ENST00000295240.8
Genome
hg19
Position
chr2:170,336,004-170,363,165
Strand
+
CDS length
1,026
Amino acid length
342
Gene symbol
BBS5
Gene type
protein-coding
Gene description
Bardet-Biedl syndrome 5
Gene Entrez Gene ID
129880
Variants

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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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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
1 170,336,004 170,336,122
2 170,338,761 170,338,843
3 170,343,579 170,343,644
4 170,344,316 170,344,365
5 170,344,497 170,344,624
6 170,349,384 170,349,519
7 170,350,251 170,350,346
8 170,354,137 170,354,199
9 170,355,996 170,356,130
10 170,359,605 170,359,688
11 170,360,813 170,360,836
12 170,360,991 170,363,165
CDS
Exon number Type Start Stop
1 CDS 170,336,064 170,336,122
2 CDS 170,338,761 170,338,843
3 CDS 170,343,579 170,343,644
4 CDS 170,344,316 170,344,365
5 CDS 170,344,497 170,344,624
6 CDS 170,349,384 170,349,519
7 CDS 170,350,251 170,350,346
8 CDS 170,354,137 170,354,199
9 CDS 170,355,996 170,356,130
10 CDS 170,359,605 170,359,688
11 CDS 170,360,813 170,360,836
12 CDS 170,360,991 170,361,092
Other genome
Genome Chromosome Start End Links
hg38 chr2 169,479,494 169,506,655 Link
CDS sequence
ATGTCGGTGCTGGATGCGCTTTGGGAGGATCGGGATGTCCGTTTCGACCTGTCCGCGCAGCAAATGAAAACAAGACCTGGAGAAGTCCTTATTGATTGTTTAGATTCCATTGAAGACACCAAAGGAAATAATGGAGATAGAGGTAGACTCTTGGTAACAAATTTAAGAATTCTCTGGCACTCTTTGGCATTATCAAGAGTCAATGTTTCTGTCGGTTACAATTGCATATTGAATATTACAACAAGGACTGCTAACTCTAAATTACGAGGCCAAACTGAAGCTCTCTATATACTAACAAAATGTAACAGTACTCGTTTTGAATTTATATTTACAAATTTGGTTCCTGGAAGCCCTAGACTTTTTACTTCTGTGATGGCAGTACACAGAGCTTATGAAACTTCTAAAATGTATCGTGATTTTAAATTAAGAAGTGCACTAATTCAGAACAAGCAACTAAGACTGTTGCCACAAGAACATGTATATGATAAAATAAATGGAGTTTGGAATTTATCCAGTGATCAGGGCAATTTAGGAACCTTTTTTATTACCAATGTGAGAATTGTGTGGCATGCAAATATGAATGATAGTTTTAATGTCAGTATACCATATCTGCAAATTCGTTCAATAAAGATTAGAGATTCAAAATTTGGTTTAGCTCTTGTCATAGAAAGCTCTCAGCAGAGTGGTGGATATGTTCTTGGCTTTAAAATAGATCCTGTGGAAAAACTACAAGAATCAGTTAAGGAAATCAATTCACTTCACAAAGTCTATTCTGCCAGTCCCATATTTGGAGTTGATTATGAGATGGAAGAAAAGCCCCAGCCGCTCGAAGCTCTGACAGTCGAACAAATTCAAGATGATGTAGAAATAGACTCTGATGGTCACACGGATGCTTTTGTGGCTTATTTTGCTGATGGCAATAAGCAACAAGATCGTGAACCTGTATTTTCAGAAGAACTGGGGCTTGCAATAGAGAAATTGAAGGATGGATTCACCCTACAGGGACTTTGGGAAGTAATGAGTTGA
Amino sequence
MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNNGDRGRLLVTNLRILWHSLALSRVNVSVGYNCILNITTRTANSKLRGQTEALYILTKCNSTRFEFIFTNLVPGSPRLFTSVMAVHRAYETSKMYRDFKLRSALIQNKQLRLLPQEHVYDKINGVWNLSSDQGNLGTFFITNVRIVWHANMNDSFNVSIPYLQIRSIKIRDSKFGLALVIESSQQSGGYVLGFKIDPVEKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPLEALTVEQIQDDVEIDSDGHTDAFVAYFADGNKQQDREPVFSEELGLAIEKLKDGFTLQGLWEVMS*