HsaINT0027163 @ hg38
Intron Retention
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135815890-135818079:-
Coord C1 exon
chr9:135817977-135818079
Coord A exon
chr9:135816006-135817976
Coord C2 exon
chr9:135815890-135816005
Length
1971 bp
Sequences
Splice sites
5' ss Seq
GCGGTAAGG
5' ss Score
9.63
3' ss Seq
TTGTCTGTTTCTGCCTGCAGAGT
3' ss Score
11.12
Exon sequences
Seq C1 exon
CTGATAACTTGAGCCGGACTCAGTCAGGCTCCAGCCTGTCCTTGGCCTCTGCGGCGACGACAGAACCCGAGAGCGTTCATTCCGGGGGCACACCCTCTCAGCG
Seq A exon
GTAAGGGGCCTGAGACGGCCGCCGGCACGGGGCTGGAGGACGTTCGGAGGGGCAGGGTGGGACTTCCTGATTAAACACGGTGAGAGAGGCTTTTGTAACTTTAATTTTGATATAATTTCACATTTACAGAATAGTTGCAATCATGTCATCAGGAATACCAGTGCCCTTCACACGGGCTCCCCAGCTGGTTAAACGTGGCAGCCTTCACCTTATCACCCTCCCCTGTCCCCCACCCCACACGTGCACACCTGCTTCTTCATCGTTTTGAGTCCGTTGGAGTCCAAGCGTGGTGGCTCACACCCATGATTCCAGGACTTTGGGAGGCTGAGGCAGGAGGATCACTTGGGCCTTGGAGTTCCAGACCAGCCTGGGCAACAGAGTGAGACCCCCCCATCTCTACAAAAAATACAAAAAAAAGTTAGCTGGGTGTGGGGGCATGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGTGGTAGTATCGCTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCTGTGCTCAGGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACGCTGCCAGAAAACCCCCAAAAGCAAAAATAAACAGAAAAAAACCACTCCGTTGGAGATGTCTGGCCTTTTATGCTTAAATACTTAAGTGTGTATTTCCTAGAACGAGAATGTTTTCTCGTGTTACCAGTTACCAAGGCAGCACTTTCATCCGATTTGCGGTCCCCATTCAGCTGTCCTCAGTTATCCCAAGAGTGTCCCTGACAACTGTGTTGTTTCCGAGTCCAGGATCTGGTTTGGGGCGATGAATGGCCTTGAAATGCCATGTCCCTGTAGTCTCCTTCGATCCAGAGCAGTTCCTTAGCCTTTCTGTGTTTTTCTGGACCTTGACTTTTGGTAACCACAGGTCAGTTATCCTTCTGGCTGCCTCTCAGTATCGGCTTCCTGTGATGAGACTGAGGCCTCGCGCTGCTGATTGAGCAGCCCAGAAGTGAGTGTGCGTCTTTCTCAACGCAGCCTCTCAGGTGGGCCCCGGGACCGCTCCTGTGATGAGAAAGTAACTTCAGGAGAGAGGCTGGGGACTGGTCTGGACCTCACGGAACTGTCCCGCAGGGGCTTTAGTGACCACCATGGAGCTCCTGCTCACCGCTTCCTCCACGCGTGTTGTCAGCTCTCGTGGGAGCAAGGGCTTCCCTTGCCCATGTGTCCCTTTATTTTTATATGCACAGCGTGTGGCTCCTGCTCTGTGTGCACCTGTGGGCCGTGTTTTCTTGTCTCTTCACCCGTCTCATGGCTCCTTGTTGTCTCTGGGCTTTGTGGCAGATCCCTCCGAGGGACTGCAGATTCTGTTTGGGTTTTTGTTCTGGTGGTCAGTTACCCTGGCTGGATTCAGACTCCAGCTCTGTCTGCCTCCCTTGTGAGAGCAGCAGCCGACATCTCTGAGCAGCTGTGTCCAGCCTTTCGGCATCTGTTGTGCTCAGTGGAGACTTCCCTGCAGGGTGGAGCTCAGGCCTTCCAGGGATCAGCGTCACTGGGACCCAAGTTTTCAGACTCGGCCTGCTGTGGCCCCTCCTTCCCTAGGTCTCATCCCTGGCTGGGCAGCAGCACAGGTGGCCCAAACTTCATCCTCTGGCTTCCTGAGCCAGCAGCACTGTGCCCTGTGCTGTGCCTGTGCCCTGCTCACGGGGGCAGTGCCTGGAGCAAGGGCTTCGTGGAGGTGAACCCCTTCGGTGAAGGGCTGACTCCCCTCTGTCTGTCTTCATCACTCCCTAGTGCCTGAAGTGTTTGCTTTTGTATTTTGCTCGGAGTGTCTGTACTGTGTGGGAGTTGTGGCAACTCGAGCCCCCACCGTCACCGAAAGCCTCCTCCCCTGCTGATGTGCTTCCTGTCCTGGTTGCGGGCCAGCCCCTTGCCAGCAGTGGTGAGAGGAAGCCAGCGCTTCACCTGCCTGTCTCTTGTCTGTTTCTGCCTGCAG
Seq C2 exon
AGTGGAATCGATGGAAGCCCTGCCCATACTGAGCCGTAACCCAAGCAGGAGCACAGACCGAGACTGGGAGACCGCGTCGGCGGCATCTTCCCTGGCCTCAGTGGCCGAGTACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559:ENST00000389532:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.675
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF086836=CAMSAP_CKK=PU(0.8=2.5)
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:
CTGATAACTTGAGCCGGACTC
R:
CTGTGTACTCGGCCACTGAGG
Band lengths:
219-2190
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