HsaINT0042139 @ hg38
Intron Retention
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:2955589-2957807:-
Coord C1 exon
chr8:2957696-2957807
Coord A exon
chr8:2955769-2957695
Coord C2 exon
chr8:2955589-2955768
Length
1927 bp
Sequences
Splice sites
5' ss Seq
TACGTAAGT
5' ss Score
9.27
3' ss Seq
GTTTCCTAATGTTGTTTCAGCTC
3' ss Score
7.63
Exon sequences
Seq C1 exon
GTTGGAAGCACGGTTTTTTTCAGGTGCAGAAAAGGCTACCATATTCAAGGTTCCACGACTCGCACCTGCCTTGCCAATTTAACATGGAGTGGGATACAGACCGAATGTATAC
Seq A exon
GTAAGTGTGATTTCTTCCACCCCCATCACAAGTCACCTATTTATTGTGAATGTCTGAGACGTGTTTACCACTAAGGGAAATAATGAGAAATTGTTTTTAATTCCCTAATCCTAAATTTTCGGATGTCCTCAAAGTTTGGTTCCCTAGAACTGGCAGCATAACCATTGGCTGGACATTGGGCTGTGAAGGCTGCTCTCAAGCCCCATCCTTGACCTTGAACCAGAGCCTCTGGAGGGAGCCAGGGAGGAGAGAAGGGGGACAGTTTAGTTTAACAAGCGCTCCAGGAGATTCTCAGGCACTGTAAAGTCTGAGAAACTGCATGAAACCGAAGATAAGTGCATAATGTTATATTGAACATTCTTAGAGGGAAAACTTATTTGTACGTGCTATTATTCTCCTAGGATATTTACATCAAATTACCAAAGAGAGGATGAACTGAATAACGTCATATGTCAGAGTCTAAGTAGAAGTGTTTAAAAAATTATTCTTGCTATAACAGGAAGTATATATGAATTGATCATTCAAATACATACTTAAGGATCACATTTTATTTTGTGACTTAATCATGAGAATTAGAAAAAATATATGGATGAGTAGTATGTGAATTATTCATTTCACTCACTCTGAATTTAGTGAAATGCGGTGTCTTATTCTTACTGTATTAAAAATAAAAACATTAATAGAATGTTATAAAAATCTCAGTATATAAGGTGTGATTTTTGGGTGTATTTATTTTAAAATTATCTCTGCTCTAAATCATTACTCAAATTATATGTTGATAGTACATGTACATATATATGTATATACATACACATATATATATGCATGTTTATATATAATATGGAGCTTGATAATATCAGGTATTTGTTGTGGTTACTAATTAGTGAAATAGTGACAACATTCAAAACAACTGCATGCACAATTTTAGAATTGTAAACTTGGCTGGGCATGCTGGCTCATGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAATCCCATCTCTACTAAAAAAACTACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCAGGAGGAGGAGCTTGCAGCGAGCGGAGATCGTGCCACTGCATTCCAGCCTGGGCAACACAGCGAGACTCAAAAAATAAATAAAAAATAAATAAATAAAAATAAATAAATAAAATTGTAAACTTGTTTTATAATAATATGTCAATCCTTTATTTGCAGCATGTATGCAAACTTTATAAGGAATGGAGTGATTTGAGATATAGAGTATACATCACAGTCTCATTTATTCCTAAATTATATTTCAAAGAAAATAAGAATCTATATTAAGTTTCTAAATACACATTAAAGTTTTATCAAAATAATTAATTAAATTGAGTAATAAATTTGGTAGTTTCCACAAGAACAAAATCAAGGCATATCTAAATATTCACCAGTCTCTATAATTTATAAGACTGGGCTTTTAAGGATCTTTAACATATTTATTTCGGTAGTATAGCAGAAGTGTTTTTATTTCAAAGCTGTGATCTCTAAATCTTTGCACATAATTACCTATGTATAAATATATATAGGATGGGTGTAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGTCAAAACAGGAGAATAGCTTGAGGTCAGGAGTTCTAGCACAGACTGGACAACATAGCAAGACTTCATCTCTACCAAAAAAAATATACATATATATGTGTATATATATGTATATATACATATTGACTGCATAACCATTTCCAAACTATTTTAATCTATTAATTTCTCTAGACACATGTGCTAACTTTACAATAAACAAAGTCTCAATGTTTCCTAATGTTGTTTCAG
Seq C2 exon
CTCATGCCTGCAGACAGCCAGAAACCCCGGCACACGCGGATGTGAGAGCCATCGATCTTCCTACTTTCGGCTACACCTTAGTGTACACCTGCCATCCAGGCTTTTTCCTCGCAGGGGGATCTGAGCACAGAACATGTAAAGCAGACATGAAATGGACAGGAAAGTCGCCTGTGTGTAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117:ENST00000520002:64
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:
PF0008415=Sushi=PD(65.5=94.7)
A:
NA
C2:
PF0008415=Sushi=WD(100=91.8)
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:
CAGGTGCAGAAAAGGCTACCA
R:
TTACACACAGGCGACTTTCCT
Band lengths:
270-2197
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