HsaINT0016927 @ hg38
Intron Retention
Gene
ENSG00000163093 | BBS5
Description
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:HGNC:970]
Coordinates
chr2:169497627-169499620:+
Coord C1 exon
chr2:169497627-169497689
Coord A exon
chr2:169497690-169499485
Coord C2 exon
chr2:169499486-169499620
Length
1796 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
3' ss Seq
TATTATTTTTTCTCTTGTAGAGT
3' ss Score
10.67
Exon sequences
Seq C1 exon
CGTTCAATAAAGATTAGAGATTCAAAATTTGGTTTAGCTCTTGTCATAGAAAGCTCTCAGCAG
Seq A exon
GTAAGATCTTGTATATTTTTATTAATCTTTGATTTTTAAAACTATGTGACAGTCTAGATTTTTGGTTTTATTTATATAGTAATCAGTTTACATCTGAGAAGAATATTAGCTTTAATATGAAGTTATATATGAAGTGTTTGAAGTCATACAGAAATTGTCCCCAGAGGAAGAATCCTGCTTATATTTTTTTGTTGGACAGACATGATCATTTGTGATCATCACTTATTATTAATGACAGAATCAAGTCATTGTGCCGAGGGCTTTTCATGCATTATCTCAATCTTTACACAATCCTACGATACAGCTACTATTTTTCCCCCATTTTATAGTCAAGGGAACTGAGGCTTTGAGAAGTTAGGAACCTTGACCATGATCTCACAACTAGTAAGTGATGGGGCTAAGTTTTGATCTCAAGTCTGACTGATTTACCAAGACTGTCTTTGAGAAACACAAACATATATTTGTGTACACACACACAGTTTGAGGTCTTATATTCTCACACACAGATTATATGCTAATTATAACCTGTTATGCTCCATTATGCCAGGTTTTTGCAGAAATACATTTAAATAAAACATGCTGGTCTCATGATAGTAGGTTTCACTGGCTAAGAAAAATTTTAAATACATTTTTAAAAGTGATTTATAAAATTACTTATCATCTACATTCTAAATTTAAACATGAATGTCTGCTTACTCCTTTCTCCTGGCCTACAGCTGCCATTTATTGAGTATTTACTCTGTTCCAAGAACTATACCAAATGTCATATATATGTTTATCTTATTTTATATGACAACTGGATAACCATTTTATGGTTAGAAAATTGAGGCTTAGAAAGGTTAAGGAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGAGCAGGAAGTCAGGAGATCGAGACCACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCCGGAGAGGCTGAGGCAGGAGAATGGCGCGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGCCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAAGGAAGGTTAAGGAAAGTTTCTAAGTATCCTACAGCTAGTGAATTAGTGGTAGAACCAGAATTTGAACATTAAAAGCGTGTGCTCTTAACCCAGAACATATACTCTCACCTATTACAGTATGCTACTTAGTTTTTTAACACTCCTTTCAAAACACTGTATCATGGCCCAGTTTCTTTCCTAATTCTTCAAGGAGATAGCCTCAGATGGCCCATTTCCTTTCTTCTTTTCGTGTAGTCTGTTCCTTTTCAAGGCCTAGTTCAAGAAAAACTTAGTTCCCTTGGCCTTCACAGTCTACAGTGTATTTTTTAAATCTTGAAAGGTTACCTTTGATATTTCAGATGAACTTATATTTGAATACACTTCAAAATAAGCCTGCGTTGGGGGAATGGTGTTCAGGTGAGGGCGAGGTTACAGATGAAACAGGGTTGTCCACATGTTGCTGCTTCTTGAAGCTGGATGATGGCTCCGTGGAGGCCCCCTTGTGCTCTTCTGTTTTTGTATGTGCTTGAAATTTTTCATAATAAAAAGTTTAATTGAAAAAATGAACTTACGTATTATGCTCTAAAATAAGGACAAATTGAGCTATAATTTATCTTATACTATAAATACTGTTCTTCAGACTTGTTGGGTTTTTTTTTATTATTTTTTCTCTTGTAG
Seq C2 exon
AGTGGTGGATATGTTCTTGGCTTTAAAATAGATCCTGTGGAAAAACTACAAGAATCAGTTAAGGAAATCAATTCACTTCACAAAGTCTATTCTGCCAGTCCCATATTTGGAGTTGATTATGAGATGGAAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163093:ENST00000295240:8
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=0.000
Domain overlap (PFAM):
C1:
PF072896=DUF1448=FE(6.0=100)
A:
NA
C2:
PF072896=DUF1448=FE(13.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAGATTCAAAATTTGGTTTAGCTCT
R:
TTTTCTTCCATCTCATAATCAACTCC
Band lengths:
182-1978
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