HsaINT0042100 @ hg38
Intron Retention
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:3219255-3223867:-
Coord C1 exon
chr8:3223729-3223867
Coord A exon
chr8:3219443-3223728
Coord C2 exon
chr8:3219255-3219442
Length
4286 bp
Sequences
Splice sites
5' ss Seq
AAGGTACCG
5' ss Score
9.67
3' ss Seq
ATTACTATTCTTTTCTTTAGTTT
3' ss Score
7.44
Exon sequences
Seq C1 exon
CTGCTTGTGGAGGGAATCTGACGGGCCCAGCAGGTGTTATTTTGTCACCCAACTACCCACAGCCGTATCCTCCTGGGAAGGAATGTGACTGGAGAGTAAAAGTGAACCCGGACTTTGTCATCGCCTTGATATTCAAAAG
Seq A exon
GTACCGTCTCTTGCAGAATACCTCTTTTTAGTAGGATTTTTAATTCCATACCTAAAAATTACTTCTTTTATGACCTCATAGTCTCTAATGTTATATCTAGGTAAGTGCTAGATTTTGTGTCTAATGGAGACTACACCAGGCTGCAAAATGACATAAATGGAAATACAGTATTTTGCTTTGGGGCATTCTACTTAAGATGCACTTGAATTATTTTTAAATACTGTTTGTCTTGCACACAATGTGTCCCATATGAGAAGGCTTAAACAGAATGTTCGTTAAAAATAATAAAAATATGGTATGGAGACATTTGGTGTAATTTCTCATCAATGTCTCCTATCACTCTAAATGCCTGATAGTGAATTCCTTTCCACAGCACATCCTGACGTTCCTGAGGGTAGCACTGCTAATATCATTATAAAATTAAGACTTAATAGAGCCTGGAAAATGAAAGTTTCCCCAAATGTGGTTGCTGTAAAGTCTGAGTTACTACATATCAGTCCTAAAAATATGCTAACTTGTACTTGCTAAACTAGACGATGGAAGGTCTAATACTGTAGTCATTTTATGAAAATAAACTCTTTAAATAATTATATTATTAGTATATGGTATATGATAATTACAATTTATTGAATCCAAAGATGTTTTCTAACTTTAGACTTTGACTTTTGAACTAAATGAATGTGTTGTTTATGAAGGTGAGTCATTCTGTAGACTTTCCTATTGACCTTTCAGCTATCCAAGGACAAGTATCTGGGATTACATTTTTTAATCTGTCAATGGAACGACTTTCCTTTTCTGCAGATCTTTATGTCAGTATTCAAGGCCTGAATGTGTTTACATACCCTCACTTTCTCCTCCTGATGAGATCTGAGTCAGTAGAATTTTACGTTTCTATGATTCTGAATCTTAAGTTGGTTGATAGTCATCTTTTCCTGAATTTACTAAACTGCCACAAATTTACCAAATGTTACTCAGCTATTACAGAAAACCAGTGAACACTCACTGGCTATATTTTTTAGATATCTATGTGGGTTTTGTTAATGTTAAATTCTAGTAGCGTCTTCCTTAAAATTAGGAGGCACCTCTGGTTTCAAGATATTATAAATGGGTTAACAGTTGAAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCATTTCAGGAGGCCAAGATGGGGAGCACTTGAGTTCAGAAGTTTGAAACCAGCCTGGGCAACACAGCAAGACTCCATCACTACAAAAAATTTTAAAAATTGGCTTGGTGTGCTTGTGTATTCCTCTGGTTCTAGCTACTCGAGAGGCTGAGGCAGGAGGACTGTTGGAGCCCAGGAGGTGGAGGCTGCAATGAGCTATGAGTGTCTAGTCTGAGCTGAGCAACAGAGCAAGACCTTGGCTTTAAAAAAAAAAATGAAATTGAACACAAAACCTTGTTAGTAGGAGTTTCCTCCCTCCCATAAAGTGCAACTCATTTGATGATATGCATATTTAAGGCAGTTTTGTGCAAGGGTTTTTTCACTGCGTTTTATACACCCCTCTGGAAGTTTGAAACAGATAATCTCTAAGCCTCTCCCAACCCATAGATTATGACTTATTAGCCGACCCAATGTCTCAGAAACTTCAGAAATCAGTGAAAACCAGTGACTTCTCTGATCTGGAGTTTGCATGTGCTCAAGCAGACATCTACCTGGGAAGTAGTGAGGAGGGAGAGACCAGAATCCTGTTAGGGGATGAGGATGTCCAGCTTCCCAAGCAGGAGGCTGGCGCTGATGAGGGCTGGCCAAGATGCAGTGTCAGGATGATGGCAAATTCAGGTGTGTTTTTTTTATGGGAGGGTGGGAGTCTGGCATTACTAATGGTAAAGGCAAAGAATCATATGACCTGAAGGACATATGGGCTCCCAGGCTCGTTCAGGGCTGTGGATGAGAGAGGATGTTCCATTACACGTCCCTGTGGATTGTGGGGCTCACACATTGGGGCTCAAATTGAATTTGGTTCAATTTGAGTCAGGCTTTGGCATGCTGTAAGAGCTTAGAGATACGTGCAGCTGGCAGAGGTAGAAATAAGGAGTTCTCCAAAGGAGCCAAAATTAGTTATAAATTTCACTCCAGACTTCTACGCATGAATTTTGGTACAGGCAAAAAAAAAAGAGAGCAGATGGGATATATAGTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTCCTGTGTCTGGCAGTATTTGCAGTATTGCATAAATTACCAATAATGATAATTAACTAAGCCAAATATTGGGGATATGACATGACCAGATTTTAATAACATCCTTGCCAATACTCTAAATACAATTATTATTCCAATAAAATTCTACGTAACCCACACCATTCCTGCTAGCGCCTATACCTAGTAACTCCAACCTTTTATTCCTTCTTCATTCCTGACGTCAGTGAACTTGTCAAATAAACAGACTAAGACACCTTCCTAAATTTCCTTTAATAAGTATATTCAGGATGTGGAGTGAGGGTATCCTTGACCCAAAACAGGTTGGCATAATGCAGGCTGGGCGTTGCACCGATGCTGGCGGTACCACGTTCTCTGTTCCCCTTCATGGTGCAGTGGACCTTTCCAGGAGGGAACTTCTGTTGCTATTTTATCATCCGAATCTCCAGATCAAGTGGAGCCACCTAGAACATTTTAGTGATTACAAAACAAACAAACAAACCAACAAGCAAAAACCCTGACCTTCTCTGTCTCAGTTGTCCCAAATTTCTGCAGTTGGAAAGGAAAGGGAGTAGGAGCTTTGTAAATTGAGTGCTTTTTAAAGACACATATGAAAAACCTGCTATAGAGAAGAAGAGGGAAGGGGCAGCTGCAATGGATGGATTGGTTGGTTGCTTGGTTGGTTGGTTGATTGGTTTTTGAGATGAGTTTTGCTCTGTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGACTCACTGCAACCTCCGCTTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGTGCACGACACCATGCTCTGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATATTGGCCAGGCTGTTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTAGAGCCACTGTGCTCTGCTGCAATGGATGGTTTTAATACTTCTACTTTATCAGTTTATTCTGGTCATATCAAGATCTTAGACATCTTAACCAAGCTCAGCCTTTCTCTTAGAGTGTGCGTAGTTTTAAAGCTCAGAGACTCTATCAGCCTACACATCACCAATGGCAAACACAGCCCAGCCCTTGACACCTTTGAATTTAAATTGTTACACTCTTTGGGGACTGACTGTATGTTAATATTAGAGCAGAGAGAAACAGAAAAATGGAGAAAGTGAGAGAAAGAAAGAGAGGGACAGAGAAAAAAAACTGGGATATTCAGTGATGGTGAAACATGATGTGAGAAAGGTTACACTCTGGGCATTGTAGGGGCTATTAATATTCGCTGATTTATCCACGCAAGTGGAGTCTTTTTTTTTTTTTGACAGGGTCTTGTTCTGTCTCTCAGGGTGGAGTGCATGGGTGCAGTGGTGTGGTCATAGCTCATTGCAGCCTCAGACTCCTGGCCTCAAGTGATCATCCAGCCTTAGCTTCCTGAGTAGCTAGGACTACAAGTGTGCACCACCACACTCTACTAACTTTTGTATTTTTGTACAGACAGGATCTCATTATGTTACCTAGGCTGGGAGAACTGCATTTTTTAAGTAAAAATAAAAGTAAGAATAGTCAGTAATTCTACTGACTATTCCAATATTTTGAAATTGCAATATTTTCAAAATTCCAGTATTTTCAAAACTAAAAATATTCAGATAAAGATAAAAGGTCAGTGGAAATGTGTCTCTTTTGAGCTTGGTTCTTTTAAATTACATCTCATTTAGCAAATTAATGAGTACACGGAAAGGATAGCATACCTCTGCTATTATGACTTATTTCCTTTTGGCTGTGGTCAGAATAATATTGTATTGAACATGATGGTAATTAGGCAAATAGTATTTGTCACAATTGATGTATTTTATACTATTGCTATTTTATTAATATTTTGATTCATACTACATTTAACTTTTTGATTGCCCTAACTGAAAAATCATTATACAAAAGCAAATAAAATCACTTTCTGAGCTCAAAGGCTTACCACTCTGGGAGATAAAATATCTGTTAGCCGTATGACATAATTACTATTCTTTTCTTTAG
Seq C2 exon
TTTCAACATGGAGCCCAGCTATGACTTCCTACACATCTATGAAGGGGAAGATTCCAACAGCCCCCTCATTGGGAGTTACCAGGGCTCTCAGGCCCCAGAAAGAATAGAGAGTAGCGGAAACAGCCTGTTTCTGGCATTTCGGAGTGATGCCTCCGTGGGCCTTTCAGGGTTCGCCATTGAATTTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117:ENST00000520002:29
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.021 A=NA C2=0.110
Domain overlap (PFAM):
C1:
PF0043115=CUB=PU(40.6=91.5)
A:
NA
C2:
PF0043115=CUB=PD(57.5=96.8)
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