Special

HsaINT0027170 @ hg19

Intron Retention

Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin-associated protein 1 [Source:HGNC Symbol;Acc:19946]
Coordinates
chr9:138741983-138742307:-
Coord C1 exon
chr9:138742168-138742307
Coord A exon
chr9:138742080-138742167
Coord C2 exon
chr9:138741983-138742079
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-CAMSAP1:NM_015447:6
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.073
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
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