HsaINT0027170 @ hg38
Intron Retention
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135850137-135850461:-
Coord C1 exon
chr9:135850322-135850461
Coord A exon
chr9:135850234-135850321
Coord C2 exon
chr9:135850137-135850233
Length
88 bp
Sequences
Splice sites
5' ss Seq
AAGGTAATA
5' ss Score
8.49
3' ss Seq
TTTTTGTTTTTGTCTTTTAGCCG
3' ss Score
9.73
Exon sequences
Seq C1 exon
ATATATGCTTAAAGGAGGTAACGTCGATGGCCGACAGTCTGTATAATATTCGGCTTCTGAGAGAATTCTCCAATGAATATCTTAATAAATGTTTTTATCTCACCTTGGAAGATATGCTGTATGCGCCATTAGTGTTGAAG
Seq A exon
GTAATAACGAATTATTTGGCATGCAGTTTTAAAACCATGTGTGAATAAACTGCTTATCATACTTTGGTTTTTTGTTTTTGTCTTTTAG
Seq C2 exon
CCGAATGTTATGGTTTTTATTGCGGAGCTTTTTTGGTGGTTCGAGAATGTCAAGCCAGATTTTGTTCAGCCCAGGGATGTTCAGGAGCTGAAAGACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559:ENST00000389532:6
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=0.067
Domain overlap (PFAM):
C1:
PF119713=CAMSAP_CH=PD(50.0=89.4)
A:
NA
C2:
PF0030726=CH=PD(26.4=42.4)
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:
TCGATGGCCGACAGTCTGTAT
R:
TGGCTTGACATTCTCGAACCA
Band lengths:
174-262
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