MmuINT0024230 @ mm10
Intron Retention
Gene
ENSMUSG00000063145 | Bbs5
Description
Bardet-Biedl syndrome 5 (human) [Source:MGI Symbol;Acc:MGI:1919819]
Coordinates
chr2:69647208-69649104:+
Coord C1 exon
chr2:69647208-69647342
Coord A exon
chr2:69647343-69649021
Coord C2 exon
chr2:69649022-69649104
Length
1679 bp
Sequences
Splice sites
5' ss Seq
GCAGTGAGT
5' ss Score
7.39
3' ss Seq
CGCATTTATGCTTATTTTAGACA
3' ss Score
5.69
Exon sequences
Seq C1 exon
GGCGCGTTGCCTTGGCGCCCATAAGACGCCGCCGAGCAGCCACTGTGGATTTCATCGGCGAGCTCCCTCGGTCACCATGTCTGTGCTGGACGTGTTGTGGGAGGACCGCGACGTGCGCTTCGACGTGTCCTCGCA
Seq A exon
GTGAGTCTCAGGATGCGCTGAGACCCCGTGACTATGGTCCCCTGCGGTCTTCGGCCCTGCCCTGGCCAGCGGCCTATCTCAGTGTGCGCCCATCAAGGCTGTGACCCTCCGCGTCCTGCGGTGGAGGGGACATAGGGCAGGGATTCCGGAAAGCAGGGTTCTAGAACAAAATCCGGAATAGCATTGCACACTACGGGCCTCTGCACGGTTGGCGTGTCTGTAAAATGAGGGCGGTGGGAGTGAGAATTCTCCAAAACTCCCGACCACGCAAAGCTTGTGTCGGAGCTAAGATTTCATTTAGTCCTTATCTAAATCTTTGAGAGCTTGTTATAAAGAAGCCCTGTTTGTGGGGGAATATGCTTAAAAGAGGAGATGGTTAAAAACCCTTCCTGCCCAGAAATCAGGGAGGGGGTCGCTGAGATCGTGATGGAAAACATAGAAGCTGAAGTTCTTGGATCAATAACTACACGGCGCCTCAGCTGCTTCCTAATGGTGCTTTATCATGAGCACTGTCTCCTAAAATAGAAAAAATGAGATATTGGTACATTTCTCAGTCTTTGTAGTAACTGGATGCCTAACATAGTATTCGTTCCTTTTGGAAGTTGAGGGAGGAGGTATTTGTGAAATTACAAAGTACAGTAACTCATTACACACCTTCTATGGCTTTCCCTGTAGTTCAGGGAGTGCCGTGGGTCTTAATCCAGACGAACCCTGTTTTCATGAACATTTTCAGTTTACAGACATCTGTCTCAAAAATCAAGACAGGAAAATAAGAGGGGTTGATTATCACACACCCTTCCTCATTCTAGTGCAGGAGAGTAGTCGTCACACAGCTAACTCAAAGGATCAAACGAGCCTGTGGAGATAGAGTGCTTTCTGTGCGCATCATTCACAGTGGAGGTCAGAAGTTAATTTGCAAAGCCGGGCGTGGTGGTGCACGCCTTTAATCCCAGCACTCGGGAGGCAGAGGCAGGTGGATTTCTGAGTTCGAGGCCAGCCTGGTCTACAGAGTGAGTTCCAGGATCAGCCAGGACTGTACAGAGAAACCCTGTCTCGAAAAACCAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAGAAGTTAACTTGCAGAAGTCGATTCTCTCCTCTGACTGTGTGGGTCCCAGGGATGACAGACACTCAGGTCATCAAACTTGGTGGTAGCCACCTTTACTCGCTGACCCACTCACTACCCTCCTGAGGATACACCTCATACAACCCTTTTAAAAACCATCCTCTCCGTAACCGCCCGACGACCTTCCTCTACTTAGAAACCTCTGGGGGTTGTCCACCACTGTCCACAGATAAGGCCTATACTTATCATCCTGCAGTCTCAGGTTCTTTGACTCTTCTCCATAGTTACACTTCTCTCCCTAGTCAGTGCCCTTTCTTCAGAGCCATGTCCCTTCTGTTCCTCTTTTTCAGTCATGCATCCTTTGCTCTTTTCCATTTAGTTATCCAAGACTCCGCTTCTGGTCCTAGCTGACTCTCAAGTGGCCCTGGTCTGTTCAGGCACCACTGACTCGTAGGGTCTAGAAGTGCATGAGCAGTCCGGGCTGTATACTTTACAGTACTGGCTGTCCTGTGTCTCTGTCTCTCCTCTCTAAGGAGATGGACAGCAGATGAAGTTATACACCTCGCATTTATGCTTATTTTAG
Seq C2 exon
ACAGATGAAAACAAGACCCGGGGAAGTCCTCATTGACTGTTTAGATTCCATTGAAGACACAAAAGGAAACAATGGAGACAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000063145:ENSMUST00000074963:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF072896=DUF1448=PU(4.2=70.0)
A:
NA
C2:
PF072896=DUF1448=FE(13.7=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:
TTGCCTTGGCGCCCATAAG
R:
TGTCTCCATTGTTTCCTTTTGTGT
Band lengths:
209-1888
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Pre-implantation embryo development
- Ribosome-engaged transcriptomes of neuronal types
- Neural differentiation time course
- Muscular differentiation time course
- Spermatogenesis cell types
- Reprogramming of fibroblasts to iPSCs
- Hematopoietic precursors and cell types