HsaINT0027172 @ hg38
Intron Retention
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135824789-135827584:-
Coord C1 exon
chr9:135827407-135827584
Coord A exon
chr9:135824881-135827406
Coord C2 exon
chr9:135824789-135824880
Length
2526 bp
Sequences
Splice sites
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
3' ss Seq
GTAATTCTTTTTCCATTTAGCGG
3' ss Score
6.77
Exon sequences
Seq C1 exon
CGAAAACAGTGTTACACCAGAAGAGCAGCCGGCCTCCTGTACCGATCTCCAACGCGACCAAACGCAGTTTCCTAGGCAGCCCTGCTGCAGGGACCCTGGCTGAGCTGCAGCCCCCCGTGCAGCTGCCGGCGGAAGGCTGTCACAGGCACTACCTGCACCCGGAAGAACCTGAATACCT
Seq A exon
GTAAGTCTGTCTTTCTGCTTTCAGAATCAGTTCACCATCTTGTGTCCCTTTTTGTGTTAGTTTAAAATATTAATTGAAGTTACCTTTTTTAAAATAAGCAATTTGTATTCGCTTATGAAAGATTTTCCTTCTGTCCCTGCCCTTCTGGCCATTCGGTCCCCTTTCCAGAGGCCGGGAATGATACTAGCAGGAAGTTCCTTCAGGGATGTGTACCTAATTCTGACATTGTTTATGGAACAGGTGTTTTTCTGTTCTCTTTTCCACCATGTGTTACACTGTTTAAGAAACGATCTAAAGATTAGAAAGTTGAATTGACAGTTTAGGTGTGCTCTTTATGGTCTGATAGACATAAAGAGTGAAATCCTCTTGCATTTCAAGTATTGTGAAGTCTTCAAAGAAGAGAATTTGTTTGCTCTTTGGGGAAGAATTAATTTGATTCGAGTGAAAAAGTGTATAGAGCTGCTTAAAGGCTAAACTACTCTAGAAAAAGAGTTGTTTAAAAAACGTTTTTTCTAAAATGAATTTTCATCATGAAGACCTAATTTGGATAACCATATCTGGGGTAGAATTGACTGTGCCAGAATTGGGGGAGGGGGTGAAGGAAGCTTCCCTTGGAGTAAGAGTGAGCTTTGTGCTGTGTGTGGTAGGAGGACCCACAGCTGATGCCAGCCTGGAGCCAGTTAGCACACCGAAAGTGGAGAAACATTTTTAACATGTGGCGATTTAAGTTGGGATTTAAGATGAAGACGCTATTTAAAAGTGGTTTTAAATAATTCACATAAGTGAATGGTTCAGTGAGACAGCATGGCATAGAACGAACTCAGTTGTTTCAGGTTGTTTGAGAGGAGCTAAAACCGGTGACCATGTTGAGGGATGGGATGCGGGGGCTGCCGGAGTCAGGAGGAAGGAGTTGAGAGGCCCTTGTGATACAGGCAGTGGTGGGGGGGTACACACCCAGGGGTGGGGCATAGCTGAGGGAGGGGTTTGGATGTGTTCTGTGTTGGGCGGCTTTGAGACTGGGGTGTCTGTCCCCAGAGCTCAGAGCAGAGGTGGGGCGGTAACTCCATGCCCGCGGGCACAGGCGGGGTCACTGAGTGAGGAGAATGGCTCGAGGCTGAGCCGTCCCTCACATGGGGCCAGCGTGGACACTTGGCGTCCTCCCTTCGGTCTTTGCGTGTCTGTTGTTGAGCCGTGTGTGTGTGTGTGTGTGTGCTGGTGCCCGTGTACACGCTGCTCTGTGACCTGCTGTCTGCACCCTGTTGTCTGCACCCAGCAGCCTGTGGTGAGAATTTTCCCACTCGGTGCATCCTCGTCTGCCACAGTTTCAACAGCTACCCAGTCTGTCACGTCATGGGCGTGCCGTGATGGGTCCACTGTCCCCACGGTGTCCAGGCTGCAGGGTTTGCATTGTGGCCCTGACACAGGTCCCTGTGCCATTCCTGCTCTGCCCAGCTTCCCCCCGGGCTCCCTGCCTTGAGCCCCTCTCTCCGCAACCCTTTCGCTTGTGTGCTCCTGCACACCTGCTCTCACTGTGTCTCTTTGGTGTCTGTGTCCTGACTCTGGTGTCCTCTGCCCGTCTTTGCCTCTTCAGGCCTAGGTGTGCTGACTCTGGCCTAGGGTGCCGAGCTGTCCCCTGTGATCTCCCCAGCCTGTCTGCACCTGGCGAATTATCCCTTTACCAAATTCTCCCCAAAGTGAAACAAGCAAGATAGCTGCCCTGCAGTGTGAGCGCGCTTGTTTCTCGGGGAGCTGGTGCCTGTGGAGTGGCAGAGGCTGCTGGGTGCCGGTCTCATGGGTGTTGCTCTGTCAGAACTGTGCGATCCGCACACGTGTGACTTCCGCCTTTCCTGCATGTGCCGTTCTTCCCGGGAGTGAGGCCTTCACACCCATGCTTCTGTGTGCACCTCTCATCGTTCTTTCTCTTAAGCTATAATCCAAGGAGTGGTAAAGGTGTGAGTGATTTTAGAGGTTTTTATGGATATTGCCATATTGTCCTCTAAAAATGTACATTTTTACCCTCCCACCAGCAGTGTGGGAATGTTCATGCTGCCGTCTGTGATGGGTTTAATTACTCATCAATATCTTCACAGTGGTGGCTTAGTACATTGGGCATCATCCTTGTGGTCTCTTTTATCTCTGAAGTTCTCTCTCTTTTTTTTAATTGAAGCAGTAATGTGCATTTTTGAAAACTGTTGCTTGTCAGAGGATCACTTTTTCTTTTTACTTTTGCTTATCTCAGAAAATCACTCTAATTGCACGCTTGGGTTTTGCTTTTCCCGTGGGAAGCTGGTTGTGTTGTAGACACATCGGGGAGTCAGTGTGCCCGTTTGCAGTGTGTGGATGTTCATCCCAGGTTGGAAGTTCCTGATACTCTTGGCTCATTTTTATTGTCATTTTTTTCCCAAACAGTCCGAGTTTCTCAAAACTTGGTGTGAATTCAGGATGGTCCTGTACACTTGTGCATTTGCTGTTGACCTTGAAGTTTGATAAAGGAATGATTTTCCCTGTAATTCTTTTTCCATTTAG
Seq C2 exon
CGGGAAAGGAACTGCTGCCTTCAGCCCATCCCATCCTTTATTGCCACTGAGACAGAAACAGCAGAAATCCATACAGGGAGAGGACATCCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559:ENST00000389532:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.523 A=NA C2=0.844
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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