HsaINT0016918 @ hg19
Intron Retention
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:970]
Coordinates
chr2:170336006-170338843:+
Coord C1 exon
chr2:170336006-170336122
Coord A exon
chr2:170336123-170338760
Coord C2 exon
chr2:170338761-170338843
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
AGAGACGCAGCTAGGCCTGCACGGCTGTGGAGAGATCCTGCCACGGGCCTTGTTCACCATGTCGGTGCTGGATGCGCTTTGGGAGGATCGGGATGTCCGTTTCGACCTGTCCGCGCA
Seq A exon
GTGAGTTTCCAAGATTCCCGAGGGATCTTCAACCCTGTAGAGGGCGCCGCCGTGCGCGTTAGGGACCCGCGGGCGGAGACTGCACCTCCGCAGCTCGCGGCCCTGGTGAGGGTGGGAGGCTTGCGCCGGTCGTCCGCGCCTCGAGAGACCTCAGGCTGGTTGGGCCACTGTGGCCCTCTCGAGGCCGGCGCCGCGGCAAGAGCGCATCGGCATTACACAGTTTTGGTCCCATGCGACCTCCGGTTCCCCCATCCTGGCCCGCGGGACGGATCAGGAATGTGAACCTGAGCACGACCGGGGCCACCCGGGGCTTAGCGTCCCGTATACACCCACGTGAGCTTGGGATTTCAGTTTCATGGAAGGAACGTAGGTCAGGGACTCAGGAAACTAGGGTTCTAAAAGTAGATGTGTAATATCGACCCACAGTGTGGGCCCTTGAGCAGATGTCTTCATCATTCAAGCTAGAATCCTCATGTCTGTAAAATAAGGGAGGTGGGAGTAAGGCAGTCGTCAAAAATTACTAACCGCGCAAACTTTATGTCCTTGGTAAGCTTTCATCTAGTTATTCATATCAGTCACCAACAAGAAGGAGTCTTCTTTTGCAACCTGTTTTTGGAAATTATCATACATTAAATAGAAACCATGTTTTTGGAAAGTATCGTAAAGAAAAAGTGGTTAGAAACCTCCTACTCCAAAATCCAGGGCGGGAAATGCCGGTTGGGTTACTAAGTGTTGAGAAACGCTAAAGCTAAGATTCCTGGATTAATGGCATGGAGCTTCTTAGCTACTTCTTATCGTTCCTTATCATGGACCTCCCCTCCTTAGGTGGAATCGTTCCTTATCATGGACCTCACCTCCTTAGATGGAATCGTTCCTTATCATGGACCTCACCTCCTTAGATGGAAAAATGAAATATTGATAAATTTCTCAGGTTAAGTATAGCTAGATATCTAATGCTAACATGTTAGACCCTTTAAGAAGATGAAAGAGAAAGGAATTCGTAAAATTACGGACTGTAGTAACATATTGCGCACTTTCTATGACATTTTCTGTCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGACGCGATCTCGGCTCACTGCGACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCACGCACCAACACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCGACATTTTCTGTCTTTCTTGTAGGGTTCTTAATCCAAACAAAAGTCCGTTTCAGTAACATTAGTAAACATTTATCCATGTTTTATTACGTGCTAGTTACTGGGCCGATAGCTAGAGACAGAAAATAATAGGAAATGATATTCATATCCCCCCGTTCTAGTGCAGGAGATACATACAGACAACCACTATAATAAATGTGGTAAATACCATTCTGAAAAAATGAGCGAAAAGCTGAGACTCATAGAAACAGAACAATTTATTCTACCTGGTGAAGTCCTTGAAGAAGAATAAATATTCATAGTATTTGAGTTGTTCCCTGAAGAATGGGCAGAGCCTTGTCAGGGTAGACAGGAGGAGAGTATTCCAGAAAAGAAGAAAAGAATTTAGCGTTAGAAGCAGTCTTGGAGCTGTAACCTCATTAGCTAAAGGCAGGGTCTGCTGCAGAGAGAGGTTGGAAGTACAAATAGATAAATTAGCCAGATTGTAACATTTTTAGCTCAGGATTTTGGACTTCAACTTCTAGGCAGCAGGAAGATATAGAAAGCTTTTAAGCAGGGAAATGATATGGTCATATCTGTATTTTCAATAGGTAGTTGAGTTGGCTTTATGAAGAGTGTATTAGAAGGCTCTTTTAGATATTTTGCTAGGTTTTTTTTTTTGGACACTGTAGAATGTATTCTGTCTGTCAGCAAGCTGCTCTTATTTCCTTTTGTCACCTGTATCTATTTGTCAAATTCCAAAGATGCTTTTCATACAGCTCTTCTTTAACCATTCCTTCTATAATTTCCTGATGTCCTTTCCTCTACTCAGAAACCTTTGGAGGTTCTCTCCTGTGCACAGGATAAGGCCTAAACCTATCAGACTGGCATTCTGAGTTCTCCATAGTCTGGTTCCTCCTTAGTTATCCAACAATATTTCTCTCACTACCTCCCAATATGGTCCTTCTTTCCAAGCTTGGCCAGCCTTCTCCCATGTCCTTACCATTTCTTATTCCTGGTCTTTAATCATGGACTCTCTTTTCTTTTCCTTTTATTTTTCAAAATTCAACACCTCCTACCAATCTGGCTTACTCCAGATGGCCCTGGTCACTCCAGGCCCCACTGATCTTCAGGTTCTTGAAGTTCTTGAAGACCTTATTTCTAAATGCATGAACATTTGGTACAGTATTATTTATGCTGTTAGCTGTTTTATGTACATATGTCTCTTTTCTCCCTAAATAGATTGCAAGCAGGTATAGTTGTAGCTATAAAATTCAAACCTTTATATTCACTTTAG
Seq C2 exon
GCAAATGAAAACAAGACCTGGAGAAGTCCTTATTGATTGTTTAGATTCCATTGAAGACACCAAAGGAAATAATGGAGATAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163093-BBS5:NM_152384:1
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.037 A=NA C2=0.138
Domain overlap (PFAM):
C1:
PF072896=DUF1448=PU(31.1=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
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)