HsaINT0016918 @ hg38
Intron Retention
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:HGNC:970]
Coordinates
chr2:169479178-169482333:+
Coord C1 exon
chr2:169479178-169479612
Coord A exon
chr2:169479613-169482250
Coord C2 exon
chr2:169482251-169482333
Length
2638 bp
Sequences
Splice sites
5' ss Seq
GCAGTGAGT
5' ss Score
7.39
3' ss Seq
AACCTTTATATTCACTTTAGGCA
3' ss Score
7.08
Exon sequences
Seq C1 exon
AAACTGCAGGGATTACAGGCAGAAGCCACCATGCCCGGCTAATAACCTGAATCTCTTGACGGTGAAGAGAAATAAGGAGAGGGGTAAAATGGCTAAAGGATGTCTGTTTGGAGGCAAGGAAGGTCGCCCAGAGGTCAGGCACGCTCCCCTTGGCGGACACAGCTGGGCTTCTCAGAGACTCCTAAATCCTGCCTCGCATCTCAAATCGGCTTAACGACGCGAAAGAGCTGGGCGACGCGCGCGCACTCTCGCGGAAGCTTGAGTCTCGGCGCCCGCCGTAGACGTCGTGACAGAGGCGGCCCGTTGCCTTGGAGCCAGAGAGACGCAGCTAGGCCTGCACGGCTGTGGAGAGATCCTGCCACGGGCCTTGTTCACCATGTCGGTGCTGGATGCGCTTTGGGAGGATCGGGATGTCCGTTTCGACCTGTCCGCGCA
Seq A exon
GTGAGTTTCCAAGATTCCCGAGGGATCTTCAACCCTGTAGAGGGCGCCGCCGTGCGCGTTAGGGACCCGCGGGCGGAGACTGCACCTCCGCAGCTCGCGGCCCTGGTGAGGGTGGGAGGCTTGCGCCGGTCGTCCGCGCCTCGAGAGACCTCAGGCTGGTTGGGCCACTGTGGCCCTCTCGAGGCCGGCGCCGCGGCAAGAGCGCATCGGCATTACACAGTTTTGGTCCCATGCGACCTCCGGTTCCCCCATCCTGGCCCGCGGGACGGATCAGGAATGTGAACCTGAGCACGACCGGGGCCACCCGGGGCTTAGCGTCCCGTATACACCCACGTGAGCTTGGGATTTCAGTTTCATGGAAGGAACGTAGGTCAGGGACTCAGGAAACTAGGGTTCTAAAAGTAGATGTGTAATATCGACCCACAGTGTGGGCCCTTGAGCAGATGTCTTCATCATTCAAGCTAGAATCCTCATGTCTGTAAAATAAGGGAGGTGGGAGTAAGGCAGTCGTCAAAAATTACTAACCGCGCAAACTTTATGTCCTTGGTAAGCTTTCATCTAGTTATTCATATCAGTCACCAACAAGAAGGAGTCTTCTTTTGCAACCTGTTTTTGGAAATTATCATACATTAAATAGAAACCATGTTTTTGGAAAGTATCGTAAAGAAAAAGTGGTTAGAAACCTCCTACTCCAAAATCCAGGGCGGGAAATGCCGGTTGGGTTACTAAGTGTTGAGAAACGCTAAAGCTAAGATTCCTGGATTAATGGCATGGAGCTTCTTAGCTACTTCTTATCGTTCCTTATCATGGACCTCCCCTCCTTAGGTGGAATCGTTCCTTATCATGGACCTCACCTCCTTAGATGGAATCGTTCCTTATCATGGACCTCACCTCCTTAGATGGAAAAATGAAATATTGATAAATTTCTCAGGTTAAGTATAGCTAGATATCTAATGCTAACATGTTAGACCCTTTAAGAAGATGAAAGAGAAAGGAATTCGTAAAATTACGGACTGTAGTAACATATTGCGCACTTTCTATGACATTTTCTGTCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGACGCGATCTCGGCTCACTGCGACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCACGCACCAACACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCGACATTTTCTGTCTTTCTTGTAGGGTTCTTAATCCAAACAAAAGTCCGTTTCAGTAACATTAGTAAACATTTATCCATGTTTTATTACGTGCTAGTTACTGGGCCGATAGCTAGAGACAGAAAATAATAGGAAATGATATTCATATCCCCCCGTTCTAGTGCAGGAGATACATACAGACAACCACTATAATAAATGTGGTAAATACCATTCTGAAAAAATGAGCGAAAAGCTGAGACTCATAGAAACAGAACAATTTATTCTACCTGGTGAAGTCCTTGAAGAAGAATAAATATTCATAGTATTTGAGTTGTTCCCTGAAGAATGGGCAGAGCCTTGTCAGGGTAGACAGGAGGAGAGTATTCCAGAAAAGAAGAAAAGAATTTAGCGTTAGAAGCAGTCTTGGAGCTGTAACCTCATTAGCTAAAGGCAGGGTCTGCTGCAGAGAGAGGTTGGAAGTACAAATAGATAAATTAGCCAGATTGTAACATTTTTAGCTCAGGATTTTGGACTTCAACTTCTAGGCAGCAGGAAGATATAGAAAGCTTTTAAGCAGGGAAATGATATGGTCATATCTGTATTTTCAATAGGTAGTTGAGTTGGCTTTATGAAGAGTGTATTAGAAGGCTCTTTTAGATATTTTGCTAGGTTTTTTTTTTTGGACACTGTAGAATGTATTCTGTCTGTCAGCAAGCTGCTCTTATTTCCTTTTGTCACCTGTATCTATTTGTCAAATTCCAAAGATGCTTTTCATACAGCTCTTCTTTAACCATTCCTTCTATAATTTCCTGATGTCCTTTCCTCTACTCAGAAACCTTTGGAGGTTCTCTCCTGTGCACAGGATAAGGCCTAAACCTATCAGACTGGCATTCTGAGTTCTCCATAGTCTGGTTCCTCCTTAGTTATCCAACAATATTTCTCTCACTACCTCCCAATATGGTCCTTCTTTCCAAGCTTGGCCAGCCTTCTCCCATGTCCTTACCATTTCTTATTCCTGGTCTTTAATCATGGACTCTCTTTTCTTTTCCTTTTATTTTTCAAAATTCAACACCTCCTACCAATCTGGCTTACTCCAGATGGCCCTGGTCACTCCAGGCCCCACTGATCTTCAGGTTCTTGAAGTTCTTGAAGACCTTATTTCTAAATGCATGAACATTTGGTACAGTATTATTTATGCTGTTAGCTGTTTTATGTACATATGTCTCTTTTCTCCCTAAATAGATTGCAAGCAGGTATAGTTGTAGCTATAAAATTCAAACCTTTATATTCACTTTAG
Seq C2 exon
GCAAATGAAAACAAGACCTGGAGAAGTCCTTATTGATTGTTTAGATTCCATTGAAGACACCAAAGGAAATAATGGAGATAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163093:ENST00000295240:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.030 A=NA C2=0.184
Domain overlap (PFAM):
C1:
PF072896=DUF1448=PU(4.2=70.0)
A:
NA
C2:
PF072896=DUF1448=FE(13.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development