HsaINT0027166 @ hg38
Intron Retention
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135881633-135883078:-
Coord C1 exon
chr9:135882816-135883078
Coord A exon
chr9:135881795-135882815
Coord C2 exon
chr9:135881633-135881794
Length
1021 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
3' ss Seq
GCTGCTGCCTCTGCCCCTAGAGT
3' ss Score
9.51
Exon sequences
Seq C1 exon
ATAACATCCCTGAGGACCTCAGAGACCCTTTCTACGTTGACCAGTATGAGCAGGAGCACATTAAGCCGCCTGTTATCAAGCTTCTCCTGTCCAGCGAGCTGTACTGCCGTGTCTGCAGCCTCATCCTGAAAGGGGACCAGGTGGCCGCCTTACAGGGACACCAGTCTGTCATCCAGGCCCTGTCCCGGAAAGGGATCTATGTGATGGAGAGTGATGACACCCCCGTGACAGAGTCCGACCTCAGTCGCGCACCCATAAAAATG
Seq A exon
GTGAGTGGTCTGCGGTGGCCGCCCCCAGGGGCCATCCTCTGGAGCCGTGGGCTCTCGTGTGGCGCACCTGGTGCATGGATGGTGTGAACACGGTGTGCGGCGAGGTGGTGGAGACCCGTGCTTTTGCACACTGGCGTTCCTTAGGAAACTGCATATCTTTTAAAGCACATGACTGTTGTGGAGAATGGGGAAAAGAGAGCTTTCATTGAGCTCTTTTTCTCATTGGGAATGCTCTGTGAATGCTGAGATTGGAGTGAGGCCTGTTAATAAAAATACTTGAAGCAGACTTTTTACAGATGAGAAATGTAATTGTTGCACCCATTCTGTTAGGTTGTTTCATGCATACTTTGTGCTAAAATAACTCAGTCTGCCTTTTTCTCCCCCAAGTATCCCACCCCCATCTTTCTCTGAAGCCTTGCTACTGGTGTGCCTTTTCCAGAGCGTTCTGGGTCAGGGCCATTCTCGGTGCCTCCTGCACTGCCTTTGTTTGGTTGCTCCCATGGCGTTCCCGGTGAGACTGCGGGTGCCGTGCGGTGGTTGAAGAGAGTGTCATTCCTGTCGAATGAGGAAGCTGCACTAAGGCGTGGTGCAGCTGTAGCAGGTAGAGCTCTGGACTAGGAGCCAGAGGCCTCTGGTGGGCAGTTGGCCTGGGGCAGGTCTCCTGTCTGCCTTCCCACAACCACGACCTGGGAGCTGCACCGCCTTTCCTGGGAGTCCCACAGGGCTGTTGAGGAGATAAGAAAGGACAGTGTGAGACAGTGCACTGTGGGCCACAGGGCTGGCCTGCCTGCCTGAGAACGGACTCCTGGTTCCAGACGGTCTTGAGGCTTGACCAGAAATGCCAGGCTTGGAACAGTGATGGTGCGGGGGAGGCAGGTCTCAAATCTGAGTATCTCTTCAGACGGAAAGGGCGAGGGATGAAGAAATTAGGCCAGAATGCTGAGTATGAGCAGGTTCCCTGCATCAGAACCTGGTAAGAGGGGTGGGTTTGAGGGATTATAGCTGCTGCCTCTGCCCCTAG
Seq C2 exon
AGTGCCCACATGGCAATGGTGGATGCCCTGATGATGGCCTACACTGTGGAGATGATCAGCATCGAGAAGGTGGTGGCCAGTGTCAAGCGCTTCTCAACGTTCAGTGCCTCGAAAGAACTTCCGTACGACCTCGAGGATGCCATGGTGTTCTGGATCAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559:ENST00000389532:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.031 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0030726=CH=PU(6.2=16.7)
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:
GCCGCCTGTTATCAAGCTTCT
R:
CCAGAACACCATGGCATCCTC
Band lengths:
352-1373
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development