Special

HsaINT0027173 @ hg19

Intron Retention

Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin-associated protein 1 [Source:HGNC Symbol;Acc:19946]
Coordinates
chr9:138715796-138716726:-
Coord C1 exon
chr9:138716635-138716726
Coord A exon
chr9:138715881-138716634
Coord C2 exon
chr9:138715796-138715880
Length
754 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
3' ss Seq
CTAATTCCTCTGTACTGCAGATC
3' ss Score
8.03
Exon sequences
Seq C1 exon
CGGGAAAGGAACTGCTGCCTTCAGCCCATCCCATCCTTTATTGCCACTGAGACAGAAACAGCAGAAATCCATACAGGGAGAGGACATCCCTG
Seq A exon
GTAAGAATGTTGTTTCCTCCTTTTTTCCTTAATTTCTCCTTACTATAGATTAGTAAAATCATATTTCTCAAAATTAAATCATTTTATCTGATGTAGTGATTTTTTTGTTTGTTTGTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGAAGTGCTGTGGCGCGATCTCGGCTCACTGCAGCCTCTGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCACATAGCTGGGATTATAGGCGCATGCCACCATGCTCAGTTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTCGGCCAGGATGGTCTCGATCTCCTAGCCTCATGATCTGCCCACCTCGGCCTCCCAGAGTGCTGGAATTACAGGTGTGAGCCACTGTGCCCGGCTGATGTAGTGATTTTAGTTAAGACTGTAGCCAAATAAATTTTAACTTGTGTTGTCAAAATGTATAGTCTTGCAGTGAAAATATCGTTGAGAGCAATTACCTTCTGTGTAGTAGACACAGAGTAACTGCGACATAAGCAGGGCTCACACATGCTGAAGCTCTCTCACAGTTCTGAACTGTGTGTTACCATCAAAATGTGGGACAACTGTATGGTTTTGCCTCTCTGCTTTCCATGCGGCCCTTCTGGTGTACTGACTTGAGAGGCATTTTTCTGGACAAATGGTCATATTGAAAGAATTTCAAGTGATAGAAAATTGGTTACTTAACACTATCTAATTCCTCTGTACTGCAG
Seq C2 exon
ATCAGCGACATCGATCGAATTCTTTGACCCGAGTTGATGGTCAGCCTCGAGGAGCAGCAATAGCCTGGCCAGAAAAAAAAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559-CAMSAP1:NM_015447:9
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.844 A=NA C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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