HsaINT0027177 @ hg38
Intron Retention
Gene
ENSG00000118200 | CAMSAP2
Description
calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol;Acc:HGNC:29188]
Coordinates
chr1:200852541-200853495:+
Coord C1 exon
chr1:200852541-200852677
Coord A exon
chr1:200852678-200853274
Coord C2 exon
chr1:200853275-200853495
Length
597 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAAG
5' ss Score
9.06
3' ss Seq
GTAACCATTTGATTTCTTAGGCG
3' ss Score
6.07
Exon sequences
Seq C1 exon
GATGATCAAAAAGCAGAAAATGATATGGCAATGAAACGGGCAGCTTTGTTGGAGAAAAGATTAAGAAGGGAAAAGGAAACTCAGCTCCGGAAACAACAGTTGGAAGCAGAAATGGAGCATAAGAAGGAGGAAACAAG
Seq A exon
GTAAAGGAAATTGCTGGCCCAGTGCTAGATCTGAACTTTAATGATGCATGGGCATATTTAGAAAAAGTTGGTAAGTACTCAAAGAGGTGGTCTCTCATTAATTTTTATTAACAGATTTCTTTCAGAGAAGTTTGTAGTATAGATAGACAGCTGGATCAATGCTATTTTTTGGTGCTTTGTAGAAATCAATTTATTTTCCCAAAGTATTGCCTAATTTTATATTTTTATCTTAAGTTTAAGGCATCTCATGGGAAAGTTCTCTAGAAACATTAATTTAAATAATTATATGTTTAAAAAACATTAAAATAACTTTCCTGGGAGATACACACACACACACACACACACACACACACGACCTAAATTATCTCAAATACCTTTATTTTTATTTATTTATTTGACTCTTCCTTCCCTCCTTTATTTACTTATTTATGCTTAATCCCATGTCTCAGCAGAATCGTCAAGTACCTTTTAAATGAACCATTTATTCACCAAGGTGATGAAATAGAATTCTCCTTTCTCATATCAAATACATAACTCTCTCCTGTATGGTTTGTCTTTGGTATGCAGAATAAGAACTGTAACCATTTGATTTCTTAG
Seq C2 exon
GCGTAAAACTGAGGAAGAACGTCAGAAGAAAGAAGATGAGAGAGCACGCAGAGAATTTATTAGGCAAGAATATATGAGGCGGAAACAACTGAAACTAATGGAAGATATGGATACAGTAATTAAACCCCGTCCTCAAGTAGTAAAACAAAAAAAACAGCGACCAAAATCTATTCACAGAGATCATATTGAATCCCCCAAAACACCAATAAAGGGTCCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200:ENST00000236925:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.884 A=NA C2=0.975
Domain overlap (PFAM):
C1:
PF116003=CAF-1_p150=FE(27.1=100)
A:
NA
C2:
PF116003=CAF-1_p150=PD(22.9=80.9)
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:
AAAATGATATGGCAATGAAACGGGC
R:
CTGGAGGACCCTTTATTGGTGT
Band lengths:
342-939
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