HsaINT1006279 @ hg38
Intron Retention
Gene
ENSG00000118200 | CAMSAP2
Description
calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol;Acc:HGNC:29188]
Coordinates
chr1:200828573-200832341:+
Coord C1 exon
chr1:200828573-200828605
Coord A exon
chr1:200828606-200832199
Coord C2 exon
chr1:200832200-200832341
Length
3594 bp
Sequences
Splice sites
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
3' ss Seq
GTATTTTTTTTATATCGTAGGCT
3' ss Score
8.54
Exon sequences
Seq C1 exon
TCTCCTTCCAAATGGTTTTGGAAACTGGTTCCA
Seq A exon
GTAAGTTTGCTCAGCTACTTCAGTTTGCTCTCCAGAATTGTAATTGTAGAATGGTATTGTTTATGTCTTGCTGTTAAAGTCATTTCATGTAATTCTGTTAGTCATTGAATAGAGATTGGATTTTAAGGTCATGTAAAATGGAAAGATAAAAGATACAGCCAAGGTTTAGATCAGAAGTTCTAAAAATAATTTAAAGGGTAAACATCCTGTTGCTAATCTTGTCAGTATTCACAGACTATCAGTAAGTAGGTTAAAAAAAAAAAACTTATGGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAGGAGGTCGAGACCAGCCTGACCAACATGGAAAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACCGTCTCAAAAACAAAAACAAAAACAAAAATCTTACTATGTAGCTTCTCATTAATTTAAATAATTTTAGTAAATATTAATTTGAATTGCATGAATAAATTGCCTGCATTTAAAAATCATCTTTGTGGCTGAGCATGGTGGCTCACGCTTATAATCCTAGTACTTTGAGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCATCTTGGACAACATATTGAACCCCCATCTCTATTTTTAAAAAATTATCTTTTTGACAGACCTAGTTCCTTTTCAGCTTGAATTATAGATGACACTTCACTTTTTGTGTGATTAAGAAAGCAGAAGGTTTTCTGTGACCTCACCAGTAGCGGACCAAAACCATATTAAATTCTGATTTGACTTAAAGATTGATCTTTCAGATTTAAATATGGGGATGGGTGTGTTAAACCACTTAAGAACTATTTTACATCCTCGATAATAAAACTCTAATTTAGAAATATACCATAATGGCCGGGTGCGGTGGCTCACGCGCATAATCCCACACTTTGAGAGGCCAAGGCAGGTGGATCCTTTGATCCCAGGAGTTTGAGACCAGCCTGGGCAACTTGGCAAAACCTCATCTCTACAAAAAATAGAAAAATGAGGCAGGCATAATGGTACACATTTGTGGTTTCACCTACTCAAAAGGCTGAGGTGGGAGAATCACCTGAGACCAGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTAACAGAGTGAGACGCTATCTCCAAAAAAAATAATAATAATAAAATAAAAATAAAACAAACAACAAAAAAAAGGAGAAGAAAATAAATATACCATAATGTTGAAATATAAAAATATAGGGGGTTCTTTCTAAATGCCAAACTTCTTAGTTTGCAGAAAGAAAGGGCATGTTTCCATGCAATAAGTTTATAAAGCAAATAGCATGTTCAAGTACAAAAGACTCTTTCATGAACTGCGGATGAACCTTCTGAGTGCTGGACATAATCTCAAGATTTAAAGTTGGTTTACTTAATATATCTTCTAGAATACAATCTTTAGGAAAATGTTTTGGCATCCCATTCATAATTCTCTGTCTAGTCTAAACCATAGATACTTATTGCTAATGTCATATAAAGCTGTGTGTGTGTGTGTGTGTGTGCACGTGCACATACATGTGCCTGTTTGCACATACCTTGTACAAAAGTGCTACTTTGCAGGAGGGAGTAGAACAAATCACATAATTCAATTCTTTGTTGCATGACCCTGGGTGCTTGGCTTAGTCCAATTCAGGTCATAGGCTGAAAACAAACTACTAGTCCCAGCCCAATTTTGAGGATGTCCAAGAGGCAGACTGTTTTTATCCCAGATAACCAAAGAAAAGCATGTAAGGATCTGGAACAGATACTAATTGTGAGAACGGTAGCTTAAGCCTAGAAGATACCGCTGTACTGGTTGATTTCTTTTTTCTTTCTTCCTTCCTCTTCCCTCCCCATGGTTGATTTTAAGCTGTTTCTTAGCTGCAAAGTGAGGAATTTTCTAAGAATTATGTTAAAATCAGAATCAATTAAAGAATCCATATAGTACCTGCAAGTAATTTTTTTCTGAATATAGTTACCCCCTGAATTAGGGATGTACTCTTAAATACGGAGTCTATTATGCACTAATTAACAAGAACCTTCAGAAATCTTTAAGAGGAAAACATGTTCCATGAATTTTGTCCTTGGGTAGCCAGTGAGAGAAATCCAGGAATAAGTATCTCCTTCTTCATTAATGCTGATGCTTTTCTGAGAGATAGCATTGAAAAGAAATCTAACTTCACTACCAAATGTTGTGTTCTCTTTCAGTAAATTTTTATTTTTCTATTTTTATTCTCACAAAAGTGTTTTATCTTATAATTATATTTTAATTCTAAACTATAGAGATGACCAATTTAGATGGAATTAGAAGAAAAAATAGTTTGATAACCTTAAAAAAACTACCAGTAATTTATGTTATATATTTTGCTAGCAAAATACTTTCGTGTGTACATTCACTAAATCTTCAGCATTATTTTACTTGGCTTTAGAAGAGTTAACAGCTAATAATAGCTAACCTTTATTGATTGCTTGCTGTGTGCCCAGCAGGATGCATAGCACTTTGTGTCCATCATCTTACTTAATCTTCCAGTGGTTCTATGAAGTGGGTACTATTATTACGCCAGTTTACAGATGGGAAAATGAGAAATGAGAGTTTAAGTAACTTGTCCAAGATCACAAAACTAGTAAGTGGCAGAACCAGGATCTGAACCAGGATCTGAATTTGTTCTCTTAACTATTACAGCATGTCTCATTTTTTAGAGATCTATTTTTAAAAATTCTATCTAGCCACACCAAACAATCTTTAGGAAACAAAGGTTTCTTCTCTTTTTCTGAGGGGGAGCAAGAACCCGTATACTTGCTCAATTATTAATGAAATCTAAGTTGGAAGGGTTTTTTTTTTTTTCACTTTCAAAGTTGTTAACTATTTGTGTTTCCTCAACATTCAGATAATAACCCAGAATGTCTTGGTGATACTATTCCAGTTCCTCAAATTTCTTTTAAGAATAGTATATTCTTTTACCTTCCCCCTCATTTTGATAACTCTTTCTGCTTGAATAGTATTCTTGCTCTTCCCGTATAAGAATTTTCAGTTTAAATTAAGTCTGAATTAAAGTAGATGAATTTTATTATCTTCAAAAGAGCAGAACTGATTATTTGGATACAAAGTGTTCAAAATCTGTTTTGTGATGCTTTTATACTTAAATATTTAAGCCAAATGTCAGTTAGTGTAAATTAGCAGTATGTTATATTAAGTATTGAGCTTCAAAACTATAGCTATTGTTGCCGTGTATTTAACTTTGGTAATACCTAGCGTTATTTAGAAAAAAAGAAATATTGGTGAGTGGTCTCATTTCTCATGATTTATTTTATTACTGGTACATTAGAATTTACAGTACTGATTTTTTTCCTATGCGTTATTTGGTACTTATTTATTTTCATGTATTTTTTTTATATCGTAG
Seq C2 exon
GCTCGTTATCGGAAAGAGCAAACATTGCTTAAGCAACTGCCTTGCATTCCATTGGTAGAAAATTTGTTGAAGGATGGGACAGATGGCTGTGCATTAGCTGCCCTTATTCATTTTTACTGTCCTGATGTTGTCAGATTAGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200:ENST00000236925:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(6.3=100)
A:
NA
C2:
PF0030726=CH=FE(29.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
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