HsaINT0016923 @ hg19
Intron Retention
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:970]
Coordinates
chr2:170344316-170344624:+
Coord C1 exon
chr2:170344316-170344365
Coord A exon
chr2:170344366-170344496
Coord C2 exon
chr2:170344497-170344624
Length
131 bp
Sequences
Splice sites
5' ss Seq
TCTGTAAGT
5' ss Score
7.96
3' ss Seq
AAATAAATTTGTCCTTACAGAAA
3' ss Score
8.33
Exon sequences
Seq C1 exon
CTGTCGGTTACAATTGCATATTGAATATTACAACAAGGACTGCTAACTCT
Seq A exon
GTAAGTCTAAAAAATCTTATTGCAATATATATATAGTAAAGAAACTAGATATTTGAGATTGATGTTTGTTTTCACTATAAAGGAGAAATTGCTCTTAAAATCTGAACTTTTAAATAAATTTGTCCTTACAG
Seq C2 exon
AAATTACGAGGCCAAACTGAAGCTCTCTATATACTAACAAAATGTAACAGTACTCGTTTTGAATTTATATTTACAAATTTGGTTCCTGGAAGCCCTAGACTTTTTACTTCTGTGATGGCAGTACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163093-BBS5:NM_152384:4
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.044
Domain overlap (PFAM):
C1:
PF072896=DUF1448=FE(4.8=100)
A:
NA
C2:
PF072896=DUF1448=FE(12.5=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:
CTGTCGGTTACAATTGCATATTGA
R:
TGTGTACTGCCATCACAGAAGT
Band lengths:
177-308
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)