HsaEX1006888 @ hg38
Exon Skipping
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135862467-135866536:-
Coord C1 exon
chr9:135866456-135866536
Coord A exon
chr9:135863788-135863847
Coord C2 exon
chr9:135862467-135862608
Length
60 bp
Sequences
Splice sites
3' ss Seq
GTCTGCTGTCTGTGTGGAAGCCT
3' ss Score
3.03
5' ss Seq
GTGGTACAG
5' ss Score
1.34
Exon sequences
Seq C1 exon
GTAAATCTTAAAATGAGAGAGATAACAGAGAAAGAAGTTAAATTAAAACAACAGTTATTGGAAAGTCCAGCTCATCAAAAG
Seq A exon
CCTGGCCTGGCGCATGCTGTGGTGCACTGCATGCTGGAACCCGTGGAGTTTGCACGCGTG
Seq C2 exon
GTCCGCTATCGACGAGAGCACCTTTCTGCTAGGCAGTCACCCTACTTCCCGTTGTTGGAGGATTTGATGAGAGACGGCAGTGATGGTGCTGCTCTCTTAGCTGTGATTCACTATTATTGCCCAGAGCAGATGAAACTGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559_MULTIEX2-8/13=6-9
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.068 A=0.000 C2=0.003
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(17.8=100)
A:
NO
C2:
PF119713=CAMSAP_CH=PU(48.8=85.4)
Main Inclusion Isoform:
ENST00000389532fB11268
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAAAGTCCAGCTCATCAAA
R:
AGTGAATCACAGCTAAGAGAGCA
Band lengths:
135-195
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains