HsaINT0016924 @ hg19
Intron Retention
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:970]
Coordinates
chr2:170344497-170349519:+
Coord C1 exon
chr2:170344497-170344624
Coord A exon
chr2:170344625-170349383
Coord C2 exon
chr2:170349384-170349519
Length
4759 bp
Sequences
Splice sites
5' ss Seq
CAGGTATAG
5' ss Score
8.73
3' ss Seq
TTGTTTGTTCTTTTTCATAGAGC
3' ss Score
9.52
Exon sequences
Seq C1 exon
AAATTACGAGGCCAAACTGAAGCTCTCTATATACTAACAAAATGTAACAGTACTCGTTTTGAATTTATATTTACAAATTTGGTTCCTGGAAGCCCTAGACTTTTTACTTCTGTGATGGCAGTACACAG
Seq A exon
GTATAGTAATACTTTATGGATTATTGAATATTTTTTGTTTACTCTATGGTTTTAGACTGCAACAGTCCCCAACCTTTTTGGCACCAGGGACCAGTTTCATGGAAGACAGTTTTTCCACGAATTGGGTGAGGGTATGGTTTCAAGATGATTCAAGTGTATTACATTTATTGTGCACTTTATTTCTATTACTATTATATACTCACCATAATGTAGAATCAGTGGGAGCCCTGAGCTTGTTTTCCTGCAACTATATGGTCCCATCTGGGGTGATGGGAGACAATGACAGATCATCAGGCATTAAATTCTCATAAGGAGGGCACAGTCTAGATCCCTTGCATGTGCAATTCACAGTAGGGTTTGCATTCCTATGAAAATCTAATGCCGCTGCTGATCTGACAGGAGGCAGAGCTCAGCTTTGCTTGCTCACTCACCCCCCAACCACTCACCTCCTGCTGGGCAGCCTGGTTCCTAACAGGCCACTGACCAGTACCCATCTATCTGTGGCCAGGGGGTTTGGGACCCCTGTTTTAGAGAATAAAGCTTAGAAGTGTGGTACTGTCTTCCTCCAAGCTCTATTGTAAATATCAGGAAGATGTTGAGAACAACATGTTTTATTATTTAATAAACACTTTGAAGGTATTTATAAAACACATAAAACTACTGAAGATTCATTAAAAATTTCTACTGACAACCAGATTAAATTAGCTACCAAGGTAGGTAAAGTGAAATAAAGAATTCATTCAATATAGCTAAACAAGTTGCATAATTAATTAATTTAAAAGGTTATTTTTCTAGTAGGTAGAAGGCATGTTTGAGTGTTTTCCCTGAAGAGTTTTATTGGTGTTTTGGTTTGTTTTAGGTTTGTGGCCTTTTTTTATTTATTTATGTTTAAATAGAGGTAGGGTCCTGCTTTGTCACCCAGGCTGGAGTATAGTGGTGCAGTCATAACTCACTGAAGCCTCAAACTCCTGAGCTCAAATGATCTTCCTGTCCTAGCCTCCTGAGTAGCTAGAACTACAGGTGCGCACCACCATGTCCTGCTAATTTTTAAAATGTTTTTGTAGAGCCAGACGTGGTGGCGCACGTCTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCTGCCTCTACTAAAAATACAAAAAAATTAGCTGAGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAAAATTACTTGAACCAGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCCGCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAATTTTTTTTTTTTTTAGAGACGGGGTCTCACTTTGTTGTCCAAGCTGGTTTCCAACTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATTACACATGTGAGCCACTTCACCCAGGCTGTTTTGTTTTTATATTTTTTCTTCTTGTTGTTTACTAAATTCTTCTCTTTTCACTACCTCGGCTTTTTTTCTTTTTTAAACAAGCCCTAAGTGCTATGATTTTTTTTAAGCTTTGCTAAGATGACAGGATATAGACACATAGGTATGTGTATATATGTGTGTATATAATTGTTTAACTTGTATTTACCAGTGAGGTTGACATTTTTCATATATTTTTTGTATTTTTTGGCTTCTCATAAATTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGTGCAGCTGCTATCTCAGCTCACTGCAAGCTCCACCTCCCAAGTTCACCCACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGTATGGTCTTGATCTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGGGCCGGGATTACAGGTGTGAGCCACTGGGCCCAGCCAATGAAATGTGCATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATGGTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGTTGGGTTTTACTGTGTTATAGAGACGGGGTTTCACTGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCAGGAAGCTAAATTTCTTAATTATACCCTTAGCTGTCATATATATTGCAAATATTATTTTTAGTTTCCTAGTTTATTTGATTTTTAATTTTATTGATGTTTTAGTCTATATAATGGCTTAATTTTTTAATTGAGATATAATTCACATAAAATTTTACATAACAAAATTTACGATTTTAAAGTATACAGTTCAATAGTTTTAGTATATTCACAATACTGTTCAACTATTGCCAAGATCCAATTCCAGAATATTTTCATCACTCCCAAAATAAATCCCTTACCCATAGCAGTCATTTCCCATTCCCTCCACTCCACAGCCCCTGATAACCTCTAACTTACTTTGTGTCTATATGGATTTGCCTGTTCTGGAAATTTTATTTACATGGAATCATATAATATGTGGCCTTTTATGTCTGACCTCTTTCACTTACACAGTGTGTTCAAGGTCCATTCATGTTGTAGCATGTATCAGTAGTAGTAGTAGTTCATTCCTTTTTGTAGCTAAAGAATATTCCATTGTATGGGCATACCACATTTTGTTTATCCATTCATGAGTTGATGGACATTTGGGTTTTTTACTTTTTAGCCATTATGAATAATGTTACTATGAACATTTGTGTATAAGTTTTGTGTCAACATCTGTTTTCAGTTCTCTTGGGCATATACCTAAACCTTAGCTCTTTATTTCACTGAGAGAAGTACTGTGAAATGAAAAGTTCTAAATGGAATATGAAGGGAACAGAAGCTGCTTTTCTTTAATAGTATTAAAAACACTATGTGCTTCCCCCCCAAAATAATTTATAGCATAAATAGTTTCTATTTCTTCCACTGGTTAAGTATTGATGATAACAGCACTAAAGAAAATTAACATTTACAAGCAGAGTGCTAAAATTCTGCTCTTTCACAATTTAAATATTAGAAGATTAAAATAAAAATTAGAAGTTCAACAATGAATATATGAATCTGTTGTTATTAAGGCTAAGAAAACTTTACTTTTGTTAAATAGGTAACTTAGCCTGTTTTATATGAAATATTAAAATTAATCAAAAGTTAATCAGGGTTTCTGTATTATCAATAGACATTGAAAAAGTTATAAGGATTTAATTCTCTTTCCCTCCCTCCCCCTGTCCTTTTTCCTCCCTCTTTCTCCCCCTCTCCCTCCCTGTTCTTCTCTTCCTCTTTCCCCCTTCTCCCCTTAGGGTCCCTTTTGGAATCAGTACAGATTCATTCTAGTTTTCTGTATAGAGGTAGACATGAGCATGTTTTCAGGTTGCAGTGAGAAAAAGTAATTGTTTTTGTTTTGAGACAGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAATGTCCACCTCCTGGTTTCAAGCAATTCTTCTGCCTCAGTCTCCCAAGTAGATGAGACTACAAGTGCACACCACCACACCCGGCTAATTCTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGCTCTCAAACTCCAGACTTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAACCACTGTGCCCGGCCGAGAAAAAGTATTAATAATTGGACGCCTGTTTATGTCCTTTGAAAAACAAGGAAAGGAAGAAAAGGTAGCATTTTGATAGAAAAAACAATTTCCATGTGTATTAAAAAATAGGGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCTGGGCATGGTGTCGTGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGATGATAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATAGGTTATTGAGATAAAATATGTAAATAATACACTAAAATGACAAATTCTACAAAAAACTGTAATTGCCAGACCTTATTAAAAAGAAAAATATAGCTGGGTACAGTGGCACATGCCTATAGTCCCAGCTACTCTGGAAGCTGAGCCAGGAGTATCACTTGAGCCCAGGAGTTTGTGTCCGGCTTGGGCAAGGTATTGAGACTTTGTCTCTATAAGAACAATTTTTAAAAAGAAATAAAAATATTAAAATGTATCATAATTATTTGAGTAATGTTCATAAATACTAACAACTACATATTTTAGTAAGTAAACATAACCCAAGAAAATCACATTTTCAGTTTGAGTTGTCTTTTGTTTGTTCTTTTTCATAG
Seq C2 exon
AGCTTATGAAACTTCTAAAATGTATCGTGATTTTAAATTAAGAAGTGCACTAATTCAGAACAAGCAACTAAGACTGTTGCCACAAGAACATGTATATGATAAAATAAATGGAGTTTGGAATTTATCCAGTGATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163093-BBS5:NM_152384:5
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.044 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF072896=DUF1448=FE(12.5=100)
A:
NA
C2:
PF072896=DUF1448=FE(13.4=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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)