HsaEX0012281 @ hg38
Exon Skipping
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135850322-135866536:-
Coord C1 exon
chr9:135866456-135866536
Coord A exon
chr9:135862467-135862608
Coord C2 exon
chr9:135850322-135850461
Length
142 bp
Sequences
Splice sites
3' ss Seq
TTTCCTTTTATCAACTACAGGTC
3' ss Score
10.51
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
GTAAATCTTAAAATGAGAGAGATAACAGAGAAAGAAGTTAAATTAAAACAACAGTTATTGGAAAGTCCAGCTCATCAAAAG
Seq A exon
GTCCGCTATCGACGAGAGCACCTTTCTGCTAGGCAGTCACCCTACTTCCCGTTGTTGGAGGATTTGATGAGAGACGGCAGTGATGGTGCTGCTCTCTTAGCTGTGATTCACTATTATTGCCCAGAGCAGATGAAACTGGATG
Seq C2 exon
ATATATGCTTAAAGGAGGTAACGTCGATGGCCGACAGTCTGTATAATATTCGGCTTCTGAGAGAATTCTCCAATGAATATCTTAATAAATGTTTTTATCTCACCTTGGAAGATATGCTGTATGCGCCATTAGTGTTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559_MULTIEX2-9/13=6-12
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.068 A=0.003 C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(17.8=100)
A:
PF119713=CAMSAP_CH=PU(48.8=85.4)
C2:
PF119713=CAMSAP_CH=PD(50.0=89.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGAGAGATAACAGAGAAAGAAGTT
R:
ACACTAATGGCGCATACAGCA
Band lengths:
203-345
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development