HsaINT0027162 @ hg38
Intron Retention
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135817977-135818616:-
Coord C1 exon
chr9:135818408-135818616
Coord A exon
chr9:135818080-135818407
Coord C2 exon
chr9:135817977-135818079
Length
328 bp
Sequences
Splice sites
5' ss Seq
CCCGTAAGC
5' ss Score
4.37
3' ss Seq
TCTGTTTCTGTCTCTGGCAGCTG
3' ss Score
10.96
Exon sequences
Seq C1 exon
GCGCAAAGCTGAGGAAGACCGGGTGCGGAAGGAGGAGGAGAAGGCGCGGCGCGAGCTCATCAAGCAGGAGTACCTGCGGAGGAAGCAGCAGCAGATCCTAGAGGAGCAGGGGCTCGGCAAGCCCAAGTCAAAGCCGAAGAAGCCGCGGCCGAAGTCGGTGCACCGGGAAGAGTCGTGCAGCGACTCCGGCACCAAGTGCTCCTCCACCC
Seq A exon
GTAAGCAGCCCCGGCCCTCACGCGGGCAGCGCTTCCTTCCGCGGGCGGCGGCCTCACGTTCTTCAGCTCATTTCAATTTTGTCATCAAGAGTGGTGTGAGGCGGGAAGGGTGGAGATGATTATCCCCGTTTCATGGATGACAATGTTGAGACCAGATGCTCTGAGATGTGCGGCACATCCAGGCGCAGCCCGGCTCCCCGGGATGGGGTGGGGACGCGGCCTGTGTGGCCGAGCTCTGCAGGGCGAGGTGAGGGGAACAGGTACAGGGGACAGGTACTTGTCTGTCGGAATCCGTTCATGAACCGTCGTCTGTTTCTGTCTCTGGCAG
Seq C2 exon
CTGATAACTTGAGCCGGACTCAGTCAGGCTCCAGCCTGTCCTTGGCCTCTGCGGCGACGACAGAACCCGAGAGCGTTCATTCCGGGGGCACACCCTCTCAGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559:ENST00000389532:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.915 A=NA C2=1.000
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:
GCGCAAAGCTGAGGAAGACC
R:
GTGTGCCCCCGGAATGAAC
Band lengths:
302-630
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