Special

HsaINT0027164 @ hg19

Intron Retention

Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin-associated protein 1 [Source:HGNC Symbol;Acc:19946]
Coordinates
chr9:138706943-138707851:-
Coord C1 exon
chr9:138707736-138707851
Coord A exon
chr9:138707062-138707735
Coord C2 exon
chr9:138706943-138707061
Length
674 bp
Sequences
Splice sites
5' ss Seq
CAGGTGACG
5' ss Score
7.66
3' ss Seq
ACCCTGGCCTCGTTTCTTAGGTC
3' ss Score
9.62
Exon sequences
Seq C1 exon
AGTGGAATCGATGGAAGCCCTGCCCATACTGAGCCGTAACCCAAGCAGGAGCACAGACCGAGACTGGGAGACCGCGTCGGCGGCATCTTCCCTGGCCTCAGTGGCCGAGTACACAG
Seq A exon
GTGACGGCGTTCGCCCTCCTTAGAGGTCATCGTGGGCATGGCCATACGCCTTTGCGTGGCTCTTTCAATATCTGTTCTCTATTTTGGTCTAAAAAGTATTTTTCTAACAAAGATGTTTGATGTAGTGAAAGAGAGCTAATTTGAGCTCTTTGGTGCTGAAATGGGCATGTGGTTTAGTAGAAGCTCTTAGGCCTGCCTTGCCCTCCTGGTCATCTGCCCTGCTGTCTGCTGTGCAGGGGGCAGCGGACCTGGGGGCAGCAGAGCCCGGGAGTGGTGGAAGTGCTTGGCTCTCACCAGCTGCCCTTGGAGCAGGCGTGGGCTCAGGGCACAGTGAACTGGAGGTGCTGCTGTGGCTGAGGTGTATGTCCCGGGGCCTTTGAACTTTAGACTTTTTACAAGTTATTTACCTGGTTTTGTCTTTTTTTTATAGTTAAGACACTGAATTTAGAAAGGGGATAAATTATTGATTACTTTGTCTTTAGTTGTCTAAAAATTTATAACTTAAAATTCTTTTGAATAAATTTAAGTGGTTTTTACTTCCCATTTTTAAATAATCATAAATATCTGTAATTCAGCCTACCCATTGCTTGCTTCTAAGACATTGCTGGTTTTCTTTTTTGTGTGTGTTCGTGCCTTAAAATAATAATTTTACCAACCCTGGCCTCGTTTCTTAG
Seq C2 exon
GTCCCAAGCTCTTTAAGGAGCCCAGTAGTAAATCAAACAAGCCGATTATTCACAATGCCATATCCCATTGCTGCCTGGCTGGAAAAGTGAACGAACCCCACAAGAATTCCATATTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559-CAMSAP1:NM_015447:15
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.675 A=NA C2=0.125
Domain overlap (PFAM):

C1:
PF086836=CAMSAP_CKK=PU(0.8=2.5)
A:
NA
C2:
PF086836=CAMSAP_CKK=FE(30.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGGAATCGATGGAAGCCCT
R:
ATATGGAATTCTTGTGGGGTTCGT
Band lengths:
230-904
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