HsaINT0027180 @ hg38
Intron Retention
Gene
ENSG00000118200 | CAMSAP2
Description
calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol;Acc:HGNC:29188]
Coordinates
chr1:200856010-200857424:+
Coord C1 exon
chr1:200856010-200856125
Coord A exon
chr1:200856126-200857305
Coord C2 exon
chr1:200857306-200857424
Length
1180 bp
Sequences
Splice sites
5' ss Seq
CAGGTTAGT
5' ss Score
8.02
3' ss Seq
TTGTTAAATCCCTACCATAGGAC
3' ss Score
7.39
Exon sequences
Seq C1 exon
ATCAGAGTCTGTAGAAGGCTTCTTATCTCCAAGTCGTTGTGGCAGTCGAAATGGAGAAAAAGACTGGGAGAATGCATCAACAACTTCTTCAGTGGCTTCTGGAACAGAATATACAG
Seq A exon
GTTAGTGTCTATACATTTTTAGAGAAACATTTGAATTTAACACACTCATAAATGGAGGGTGTACTAAAGAAAATTTTATTGGCTCACCTTTGGGTCTTAAACATAGGCAACTAATAAACAGTGAATGCAGGTGGTCACTTTCAGGTAGTTCAGTAAGTTTCTAAACAAAATTAGTGATGCTACTTATATCTCATCCCTCTAACCAATGCTGGCCATTTCTGTGTGTAGTTTGGGTCCGAAGAAGTTTTAGAGAAGTTCTACATAGTTCCTCAGTACTGAGTAAAGGCTAGAATCCACCAAGTCCTCTCCCTAATACTGGGATTCCAGGTATCCAGAATTGTGCACCTTTAGCAAGTATTAAGAGGCTCTAAAAGATAAGAATGCATTGAATCTAGGAAGGTATCTAGCCTCACATATCGCCACCAAGTCCTCTTCTAGCTTCTAGGTAGGCATGATTGGAATAAAAGCAATGAAGAATAGAATGTGGGTTAAGGACACTTCTAAATAAATGAAGCAGGAGAGAAATCAGAAGAAATGTCAGCAGCACGTTGAGAGGTAAGATAGGAAGGCATGGGAGAACATGTATGGGGAAGAGCAGAGGGAAAAGGAGATGCCTCCATCTATCCATGATAGAGTGGAAGTGGAAACCCTAGAAAGGCCTAAGGAGGTTAGAACTTGCTAGAGACCCACTCTGTGGCTTTTAATACTACCTCCTACCGCCAGTCTGACAGCCTTTAAGGCCTGGGATTTGACAGTATTTCCATGTTACTCACTCTGCTTCTCTATGTTAGTTCAGTTGAACAATCTGAAAAAGAAAGCTTTTTTTTGCCTTTTGAAAAGACTTAAATTACTCATGGACCCATTCTACTCTAAGCTAACCAGTAACCGTATAGATTTAAGAAAGAAGGTTAAATAGGCAGTATGACAGTTATAGCAATATTTTATTTTTAGTACTGCTCTCACAGGGTACTCCAAAAGGCCATAGGAACATCCTCCATATCTCTGGGTGGATAAAACAATGTTTTGGTTGGATTGCAGCCAGTAAGAGGCCTTTAAGCACAGAATTTGGTCTTCTATTACAATATTTCAGCAGTGTAGGAACAATTACATCATTTTAAAATAGTAGTATTTCTGACTTAGGAATGTTATTTTTATTATTGTTGTTAAATCCCTACCATAG
Seq C2 exon
GACCAAAGCTCTACAAAGAACCCAGTGCAAAATCCAATAAGCACATAATACAAAATGCTTTAGCTCATTGCTGTTTGGCTGGAAAAGTAAATGAAGGTCAGAAGAAAAAAATACTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200:ENST00000236925:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.943 A=NA C2=0.360
Domain overlap (PFAM):
C1:
PF086836=CAMSAP_CKK=PU(0.8=2.5)
A:
NA
C2:
PF086836=CAMSAP_CKK=FE(30.0=100)
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:
ATCAGAGTCTGTAGAAGGCTTCT
R:
TTCTTCTGACCTTCATTTACTTTTCC
Band lengths:
222-1402
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