HsaINT0027164 @ hg38
Intron Retention
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135815097-135816005:-
Coord C1 exon
chr9:135815890-135816005
Coord A exon
chr9:135815216-135815889
Coord C2 exon
chr9:135815097-135815215
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:ENST00000389532:15
Average complexity
IR
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
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
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