HsaINT0042101 @ hg38
Intron Retention
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:3214497-3219442:-
Coord C1 exon
chr8:3219255-3219442
Coord A exon
chr8:3214692-3219254
Coord C2 exon
chr8:3214497-3214691
Length
4563 bp
Sequences
Splice sites
5' ss Seq
AAGGTATTG
5' ss Score
7.76
3' ss Seq
TACATTCATTTCTTCCACAGAGA
3' ss Score
9.05
Exon sequences
Seq C1 exon
TTTCAACATGGAGCCCAGCTATGACTTCCTACACATCTATGAAGGGGAAGATTCCAACAGCCCCCTCATTGGGAGTTACCAGGGCTCTCAGGCCCCAGAAAGAATAGAGAGTAGCGGAAACAGCCTGTTTCTGGCATTTCGGAGTGATGCCTCCGTGGGCCTTTCAGGGTTCGCCATTGAATTTAAAG
Seq A exon
GTATTGCGATTGCCTGAATTTGAGTGGGAATTAATTTGTATCAGGACTGTTTTTATTGTAGGCATTGCTTTGTAACATCTTGCTTGTCTGTTTAATACATAAATGCTGATATGTGTCTCCTCTGTCTGGGAAGATACATGTCTCCTCCCTCTCCAGTGAAGATATTCCTGAGGTGCATTTCTACTTTAACTGGAGGAAGAAAGAGAGGGGAAAAAAACTGTCCCAGTTCATGGCCATATAAAAATAAATTGTGGTTTGTAAAATAAAGAATTTGATGACATTTAATAATTATTTTAAGACGGGTTTTAACACCTTATAATTTGTTTCTTCAAGATGATTAAATGTAAGTACATGAAAATAACTTTTTTTTTTCTTTTTTCTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGGGCAATGGCACGATGTCAGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGTCTCAGCCCCCCGAGTAGCTGGAATTACAGGAGCATGCCACCATACACGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGTGATTATAGACGTGAGTCACCGTGCCCAGCCAAAAATAATTTCTTTTTTTTTTTATTTTTGAGATGGAGTCTTGCTCTATCATGCAGGCTGGAGTGCTGCAGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAGCTGCCACCACGCCCGGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACAGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCATGATCCTCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGCCCGGCCAATAACTTCATTTTATCTCAACATTTTCCATGTCAACATATCTGTACCCTTCCCTGCCTCAGTCAGCTATGGCTGGTTTAGCAAGGTTTCTGACGCTGCTCAGAGCTCTTTTCTTTTATCATCAGATCAGTGATTTACCCTTGATTTGCTATAAACCATTCCCTGCCACTAACATCCAAGGAAAACAGACTGACCTGAAAAACCACCTTCAACTCAACATTTTGCTATTGGGTCCATCAGAATAAATATATGTTTTTTCAAATTTATTTCTCATGTGAACAAAATAAAATACAAGGTGTATTACAAAGAATTAGGGAAGAGGACTTAACAAAATATCAATTCACAGTTAGGAGGGTTTTCTTTAAAAAATGAAAATATTTATATTTATTTACACTTTTGAGTTCAATTTGTGTGAAAAATCTTTTTAAAAAGAACATATTTTATGTCTCTTACCTCATTACCAGAACTGTTTATATAGTTTTAAGTAGAAAATTGGTTTCTTTGCTCCCAAACATCAGAATCTGCACACTTAGGGGTATTTACTAAAATGTACAATTTTAAAAATTATACAATTTAGCAATCAGAGTATCCTATGCCTTTGAGATGGGATCCGTCACGTTTAGGAATAGTTGAAAACAGTACTTTTGAGCCTTTGCCACATCATAATTTAGTTTCTTAACAAGAATTCACTAAAATGCATTTTACCATGACAGTACTTATTCTATGATAGCCCCCCACGCCCCCAACAAAATCATGCAGGCAAGTAAACAAAACAATTCCTCATATAATTGTGAGAATGTACACTGATCATTGCCCACTCTGACAACTCCTGTTCTCCCCGGCATCCTAAGGCACATGAATAAATGGGCCAACGAATGAATGAAGTATGAAGGGCCTTACAGGTTGCATGAAGAAAGAACTTCCTTAATTTTTGTTTGGGTAACCGGTATGGCCATCTAACTGGAGGCTGTAGTTCCTGAGGTTTTAAAAGCTCTCCAGTGGAGTCTGTGAAAAATAAAAATCACAGGAAAGAGAATAGGAATGATGCCATTGCATGCAGCCTGGAGCAGTGATGCCATTGCATGCAGCCCACGACAGTGATGTCATTGCATGTAGCCTGGAAAAATGATGCCATTTCTTCCAGCCTGGAGCAGTGATGCCATTGCATCCAGCCTAGGGCAGTGATGCTATTGTATCCAGCCTGGAGCAGTGATGTCATTGCATGCAGCCTAGGGCAGTGATGTCATTGCATCTAGCCTGGAGAAATGATGCCATTGCATCCAGCCTCAAGCAGTGATGCCATTGCATCCAGCCTAGGGCAGTGATTGCATCTAAGCCTGGTGCAGTGATGTCATTGTATTGCATGCAGCCCAGAGCAAGTGCTGGTGTGGATAGCAAAGCAGGTGACAGATCCAGTTCTTAGGCATGATGGGAAATAGAAGGAACACCAGGCAGTCGTGCTGTGCAACAATTCACAAATCCTGGCTGAGGCAATCCACCTGGCCTCTGATGCAGGAAAGCTCAAAGGTATGCATAAGTGGAACGGACACGGACAACACAAAATACACCCTGTTATGAAGTCATCTAGTTAGAAGCCTGGCAAATTGTAAGCAAAAAATGTGCCAGTGATTTATCACGGAACATCCTGAAGTGACAAGTCAGTAATGGAACTAAAAGATTAGATGCAGTCCATTGGGAAAAAATCCTGCCATCAGAAATCAAAATTAGTGGCATAAAGAAGAAAGTTGTGTAGGTGATATTTAATCAAACAGGAAACTAGACTAAAAGAGATTTATAACAAAAAAATGATCAAAAAGGACACAAGAGCAACAGACATACATTAATAGATGTGTACTGGGAAATTTTTTATTTTCAATAGGGGAAAATATTGTGAACAAGTCCATGCTTCTATTCACTAGATCCTCAGTACATTGTGTTGAATGATTAAATAAAATATCAGAAAAACTGAGCAACTTTCATAGTACTTACAGGTTTACTTATTTGATCTGTATTTGCTTAAAATAATGTTCTATATTCTATATGGGATTTAATGCAGTTACAAAGAATTATCAACATGTCAGCTACCATTTTAAACATCCAAACAGCTTTTCAACAAAGCAATTAGAGAGCACTGGTTTGAAGGCACAAAACAAGAAATGTATATAAAATATATATGTATCATTTAATCTCAAATTCTTAAATGAGAAAACTTATATATATAATATATATTAATATAGATTTAATCAAAGTATGTAAATTATATAGGAAATATAGTTTATTAAATATAATACATTATTATAATAGATTCTTTATATAATGTATACGATGATTAAGTCAATGATCACCAAAGACATCTCTGTTTGGTTGATGATTACACATGGATTATTAAAAATATAATTGAAAATATTGAATAAATACAGTTAATCAGGTCTCTTTTTCTTCCTCCAGAGCTTCCCAAAGTTTAGCATTTTTGTTTTTGCTTTTTCCTCTCCCATTATATTTATCTATTTCTAGCAGGGTGGTAGACTGCAGGGTTATACACTTTTTCATTTAGAGATATTTTAGATGGTCTATTGAAACAGAAAATTAAAAATATTAAGGCTACCAGAAGATAACTGAAATTGACTGCAGAACAACATGACTGAAGAAAAAAGGTTTTGTATTTTTACTTGGGAAGAAGAAATACTTAATGCAGCCAAAAGTGAATGCCTAATTGAGGGGCCCCAGAAGTGGGCAGGTCTCTGCAGGGGGTCTTTGTGGAAGTGACTTAACTTTCCTTGAGTTTTACATTCTTATGATCCTTTCCTGGCAGAGGTGTCCTGGAGATTAGAATTAAACAAGAAATGCACCTAGTTCCATGTCTGGTACATAATGAGCCCTCAATAAATTTCAGCAATTATTTTAACTAAGGTAGAACTATTGGCTGTTAGTACATCCAGTGCACAATGTTTGACCATCATCTATCAGTCAATGTATTTTTTTCTTCTAAGTTTGACGTTTACTCTATTAAGACTAACAACAGAAATACGGTAGTAAAAGAATGAGAACAAGCATCCATCTTCATCTTCTAAGTCTGTCTGTTGTTATTCGTATAAGAAAGTGCTCTTAACTTTCAGGAATTAAACTGTTTCATTTTGAGAAGCCAAATTCTCCAGTCTTTTCTGAAAGGTGTGGAATGATTTTATGTTAATATGTTTGATGTACAAAAGTTAGAAAATGAACCTCAATTTTTCCAGAGTCAATTTTTCTTTGATTCAGTCCTAAAATCTGTAGCCAAAAATGGATAAATATATAAAAACGTAGTACTGTATTTTTTATGTAGATGAAGGTAATTTTATATCAATTCTGTAGCAAAATGTGGTTTTTAAAATGGAAATATAATTTTATTAAAAAGGAATTTTCTTATTTTAATTAATAGTTTCACTTGGTCAATAGCCAATCAATAAATATTCTTTGAGCATTTCTTACTTATTTAGGACATTGTTCTAGGCCCTAAATAACACAATTAAAGAACCAACCCAACAAACAAAAACACAAACAAGAATAAGATCCCTGCTCTCATGCAGTTTACATTCATTTCTTCCACAG
Seq C2 exon
AGAAACCACGGGAAGCTTGTTTTGACCCAGGAAATATAATGAATGGGACAAGAGTTGGAACAGACTTCAAGCTTGGCTCCACCATCACCTACCAGTGTGACTCTGGCTATAAGATTCTTGACCCCTCATCCATCACCTGTGTGATTGGGGCTGATGGGAAACCCTCCTGGGACCAAGTGCTGCCCTCCTGCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117:ENST00000520002:30
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.110 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0043115=CUB=PD(57.5=96.8)
A:
NA
C2:
PF0008415=Sushi=WD(100=87.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
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
- Pre-implantation embryo development