HsaINT0027175 @ hg38
Intron Retention
Gene
ENSG00000118200 | CAMSAP2
Description
calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol;Acc:HGNC:29188]
Coordinates
chr1:200847640-200850234:+
Coord C1 exon
chr1:200847640-200847709
Coord A exon
chr1:200847710-200848031
Coord C2 exon
chr1:200848032-200850234
Length
322 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAAC
5' ss Score
8.14
3' ss Seq
TCTCTTTAACTTTTTTTTAGATC
3' ss Score
10.17
Exon sequences
Seq C1 exon
GAGGAATTAGAAGGTCTTCATCTATGTCTTATGTTGATGGCTTCATAGGGACATGGCCCAAAGAGAAAAG
Seq A exon
GTAAACAAAGAGAATTACTTTTAGTGTATTCAGATTATTAAGAAATGCAAATTGCATCTGTGTCTCTCTTTTATTGATAACCAAATTGCTAAAACTTTTAATTAGTTCCTAAATTTGAAAAAGGCAGTATAGGCAGATGATAGAGATGTAAAAGAGGCTAACTTTAAAAAGTAGCTAGATAGCCCTCCCCTTACCTTGAAGACAGTATGATTATGAGAACTGGGGAAAGAAAGGAAATGTAATTTCAAATAATTCTTGTTAAATGATACTAAAAATCATTTCTAGGATTTTTAAAGGATTTTTCTCTTTAACTTTTTTTTAG
Seq C2 exon
ATCATCAGTGCATGGCGTATCATTTGATATTTCTTTTGATAAAGAAGATAGTGTACAGAGATCCACTCCAAACCGAGGAATCACTCGTTCTATTAGTAATGAAGGACTTACTCTGAACAACAGTCATGTATCTAAACACATTAGGAAAAATTTGTCCTTCAAGCCAATAAATGGAGAAGAGGAAGCAGAGAGCATTGAAGAAGAACTTAATATAGATTCTCACAGTGACCTCAAATCTTGTGTGCCCCTTAACACAAATGAACTAAATTCTAATGAGAATATTCATTACAAGCTTCCAAATGGAGCTTTACAAAATAGAATACTTCTTGACGAGTTTGGCAATCAGATCGAGACACCAAGCATTGAAGAAGCATTACAAATAATTCATGATACTGAAAAATCTCCTCATACACCTCAGCCAGACCAAATTGCTAATGGCTTCTTTCTTCATAGTCAAGAAATGAGTATCTTAAATTCAAATATCAAGTTAAATCAATCTAGTCCTGATAATGTAACTGATACGAAAGGTGCCTTGAGTCCCATAACTGACAATACTGAAGTAGACACTGGAATTCACGTTCCTTCAGAAGATATTCCTGAAACTATGGACGAAGATTCTTCGTTGAGAGATTATACTGTAAGCTTGGACTCTGACATGGATGATGCATCTAAATTTCTTCAGGATTATGATATTCGAACTGGCAACACCAGGGAAGCTTTGAGTCCTTGTCCAAGTACTGTAAGTACCAAGTCTCAGCCAGGCAGCAGTGCTTCTTCTAGTTCTGGAGTTAAAATGACCAGCTTTGCTGAACAAAAATTCAGGAAACTGAATCATACCGATGGAAAAAGTAGTGGAAGCAGTTCTCAAAAAACTACACCAGAAGGCTCTGAACTTAATATTCCTCATGTGGTTGCTTGGGCACAAATTCCAGAAGAAACAGGGCTTCCACAGGGACGGGACACTACCCAGCTGTTGGCCTCTGAAATGGTGCATCTTAGGATGAAACTAGAAGAAAAGAGGCGTGCTATAGAAGCCCAGAAAAAGAAAATGGAAGCTGCTTTTACCAAACAGAGACAGAAAATGGGAAGGACAGCATTCCTTACTGTAGTGAAAAAGAAAGGGGATGGGATATCTCCTCTACGAGAGGAAGCGGCGGGTGCAGAAGATGAGAAAGTATATACTGATCGAGCAAAAGAAAAGGAATCACAAAAAACTGATGGACAAAGGAGCAAGTCACTGGCAGATATAAAAGAGAGCATGGAGAATCCTCAAGCCAAATGGCTAAAGTCTCCAACTACACCTATTGATCCTGAGAAGCAGTGGAACCTGGCAAGCCCCTCAGAAGAAACTTTAAATGAAGGAGAGATTTTAGAATATACCAAATCCATTGAAAAGTTAAATTCATCCCTGCATTTTCTACAACAAGAAATGCAACGCTTGTCACTTCAGCAGGAGATGTTAATGCAGATGAGAGAGCAACAATCTTGGGTGATTTCACCTCCACAACCCTCTCCACAGAAACAGATTCGAGATTTTAAGCCTTCTAAGCAGGCAGGCCTGTCATCAGCCATTGCACCATTCTCCTCAGACTCCCCTCGTCCTACTCACCCATCTCCACAGTCTTCTAACAGGAAAAGTGCATCTTTTTCTGTTAAAAGTCAAAGGACTCCTAGGCCAAATGAGTTAAAAATAACACCTTTGAATCGAACCTTGACACCTCCTCGGTCTGTGGATAGCCTTCCTCGGTTAAGGAGGTTTTCACCAAGTCAAGTTCCTATTCAAACTAGGTCATTTGTATGTTTTGGGGATGATGGAGAACCTCAGTTAAAGGAATCCAAACCTAAAGAGGAAGTTAAAAAGGAGGAATTGGAATCCAAAGGGACTTTGGAACAGCGTGGACATAATCCAGAAGAAAAGGAAATCAAACCTTTTGAGTCAACAGTCTCTGAAGTCCTATCACTGCCTGTCACAGAGACTGTATGTCTGACACCAAATGAGGACCAATTGAATCAACCCACAGAACCCCCTCCTAAACCCGTTTTCCCACCCACTGCTCCAAAAAATGTTAATCTGATTGAAGTTTCCCTCTCAGATTTGAAACCCCCTGAAAAGGCTGATGTACCTGTTGAAAAATATGATGGAGAAAGTGATAAAGAACAATTTGATGATGACCAGAAAGTATGCTGTGGATTCTTTTTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200:ENST00000236925:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.142 A=NA C2=0.847
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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:
ATGGCTTCATAGGGACATGGC
R:
AAGCTCCATTTGGAAGCTTGT
Band lengths:
342-664
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