HsaINT0016923 @ hg38
Intron Retention
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:HGNC:970]
Coordinates
chr2:169487806-169488114:+
Coord C1 exon
chr2:169487806-169487855
Coord A exon
chr2:169487856-169487986
Coord C2 exon
chr2:169487987-169488114
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:ENST00000295240:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.065
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