HsaINT0027161 @ hg19
Intron Retention
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin-associated protein 1 [Source:HGNC Symbol;Acc:19946]
Coordinates
chr9:138710254-138710992:-
Coord C1 exon
chr9:138710856-138710992
Coord A exon
chr9:138710463-138710855
Coord C2 exon
chr9:138710254-138710462
Length
393 bp
Sequences
Splice sites
5' ss Seq
CCGGTAAGC
5' ss Score
8.8
3' ss Seq
TGGGCGTGTGTTTCTCTCAGGCG
3' ss Score
7.87
Exon sequences
Seq C1 exon
GATGAACAGAAAGCGGAAGATGAGCTCGCCAAGAAGCGGGCGGCCTTCCTCCTGAAGCAGCAGCGCAAGGCCGAGGAGGCCCGCGTGCGCAAGCAGCAGCTGGAAGCGGAGGTGGAGCTCAAGCGTGACGAAGCCCG
Seq A exon
GTAAGCGTCCCGCCGGGGGGGAAAGCAGACTGAGCAGGAGCCTGGTGGGTCCCTGGCGGCCCCGGTCCCGTTGCTGGCACTGAGCATGGACCATGGCAATGAGTGCCTGTGACGGTCTTACTCCTCCCATGGACCACCTCCCCGAACTTTCACGGCCCCTGCTGATCTTCAGTGAGGACGTGCGTTGCCGGTGGCCAGGGAGGCTGTGTGGCCTCGGTGGGTCATCTGCAGGACTGCCTTTGCAGCCTCTGTGTCCCGCTTGTGGAGGCTGGCCACTCTTGGTCCCAGCGGCCGGGGAGAACCCGAGAAACGCGCCTGGACAGAGCGCCGCGGCGCAGGCGTCGTGGAAGAAGCCCCGTGACCGAGCAGTGTCTGGGCGTGTGTTTCTCTCAG
Seq C2 exon
GCGCAAAGCTGAGGAAGACCGGGTGCGGAAGGAGGAGGAGAAGGCGCGGCGCGAGCTCATCAAGCAGGAGTACCTGCGGAGGAAGCAGCAGCAGATCCTAGAGGAGCAGGGGCTCGGCAAGCCCAAGTCAAAGCCGAAGAAGCCGCGGCCGAAGTCGGTGCACCGGGAAGAGTCGTGCAGCGACTCCGGCACCAAGTGCTCCTCCACCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559-CAMSAP1:NM_015447:12
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.482 A=NA C2=0.915
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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:
AACAGAAAGCGGAAGATGAGCT
R:
GGGTGGAGGAGCACTTGGT
Band lengths:
342-735
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)