HsaINT0042143 @ hg38
Intron Retention
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:2949299-2950343:-
Coord C1 exon
chr8:2950231-2950343
Coord A exon
chr8:2949387-2950230
Coord C2 exon
chr8:2949299-2949386
Length
844 bp
Sequences
Splice sites
5' ss Seq
TATGTAAGT
5' ss Score
6.69
3' ss Seq
TTTTCTTTCCTATGTGTCAGGTG
3' ss Score
9.83
Exon sequences
Seq C1 exon
GCATTTACAAGAAGGAGGAGGCCCACTTACTCCTGAAAGCTTTTCAAATTAAAGGCCAGGCAGATATTTTTGTAAGCAAGTTCGAAAATGACAACTGGGGACTAGATGGTTAT
Seq A exon
GTAAGTACATGTGTAAGGTCTGTGACAAAGCACAGGCTTTCTAATCATCTCTCTGTGCAGATGCAAGGGCTACGGATTGGAGGCTTCTGAGTAGAGCTGTCTTGTGTCTGCCCCTTGAAAACTCAGCTGCCCCTCTTCTTGACAGAGTGGCCATTTTATTCCTTCATTTTATAAGGGAAGAAACCAGGTCTAAGAAGTAAGCAATGAACTGGCCATCCTTAAAGGGGTGGTTACTGTTGAGGACAGAACAAGACCTGAAATCCAGGGTCTATGATGTTACTGCTACGTTATATCGTGAGTGGTGCCATCAGAAATTTTCCAAGACCGCTTGATAACCACGCTGCTCGTTCTAAAAGAAATCATTCCCAGATAAATAGAAAGATTTAAGACATCCCCCTTAACACCGTTCTTTGCAAGTTAACCATTTGTTCGTGTTCTAATTTACTATCTGACTTAAGGGTAGACAGCCATACATGATGTACCCTGCCCAATAGCTGGGACACAAAGTGAGTTTTACATAATGTAGATTATTTCTTAATTCATACGTTTGTGTTCCCTTAGAAAGTGCAGTTAACATATGGATATATTGTAAAATTTGCTATCATTTTCGAGATCAAAATGAGATTGTGAGCATTTGCATATGTTAGTTAAAGTTCACTTCTGTGTTGGTTTCTGATCTTTAACTATAAATGTGTCACCAAAAGCCATGGCAAAAATAAAACATTTAACCAGTAGTATCTAAATATGAGATATAACAGTTGTATTAAAAGATATATTAAAAGAGGATATTATTCATCCCTTCGTATACCTTTTTATTTCTTTTCTTTTCTTTCCTATGTGTCAG
Seq C2 exon
GTGTCATCTGGACTTGAAAGAGGAGGATTTACTTTTCAAGGTGACATTCATGGAAAAGACTTTGGAAAATTTAAGCTAGAAAGGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117:ENST00000520002:68
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=0.067
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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:
TTTACAAGAAGGAGGAGGCCCA
R:
CTTGCCTTTCTAGCTTAAATTTTCCA
Band lengths:
198-1042
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