HsaINT0042183 @ hg38
Intron Retention
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:33611041-33614620:-
Coord C1 exon
chr1:33614504-33614620
Coord A exon
chr1:33611251-33614503
Coord C2 exon
chr1:33611041-33611250
Length
3253 bp
Sequences
Splice sites
5' ss Seq
TTGGTAAGT
5' ss Score
10.47
3' ss Seq
TGCCTCTGTCTTGCTCCCAGGAG
3' ss Score
9.51
Exon sequences
Seq C1 exon
CACAGTGTGGGGGAACAGTGGAGGAGATGGAGGGGGTGATCCTGAGCCCCGGCTTCCCAGGCAACTACCCCAGTAACATGGACTGCTCCTGGAAAATAGCACTGCCCGTGGGCTTTG
Seq A exon
GTAAGTCTCTGCAGCCCCCAGAGGAGACAGGCTTCAAGCCCAGACCCTTGAGCTTAAAACTACTGTCCGCCAAAATCTCTTAGCACAAACTTGGGCCAAGTCTGTTTAGTACTCTGCCTCTCTGTTTTCTCATCTGTTGACCTCTTGTACAATTGTGAAGACCAATTAAGAATGGCAGAGATTAACATATAGGGGGGAGAAAAATCTTAGGGGTTGCCATTATTATTATTTGAGCCATAAACTAAAATCCAGGAATGTGGAATGAGAAATTACTCGGATTATACCTAACTAACACTGTATCACTTGATATTAAAAATAAAAAATAAAAATAAATTACTCAGGGACTTAAAAAAAAAGGCGGGGGTGGGGCGGAAATCTGTCGTACAGAGACTGGACCTCAAGTTGTACTTTTAACCCCAGTGTCTAATTTATCATCCTAATTAAATTGAGCCAAATCAATGAGAAATCGAGTTTGCATTCTTCTTCGTATGCACATTCTAGCTGGCCTAGAGACTGGGAAGGTTGTTTTTTTGGTTTTGGGGGGTTATTTTTGTTTTGTTTTGTTTTTGGAGCTGGAGTATGCTAGGCATGGGAGGTTGTCAGGGTGTGGAGGACATCAGTGTGGGTACAAAATGTAATTGCTGGTGATCCACATATTATGCACTGGGAATATCATTTAACCCAAATGTCTCTGTTGAAGGGATGAGGGCTTTGTGCTGACATGGAACTGATGGGCCGTACGCACGGGTCATCTTGCCCAAGCCATTGCACTGCTTCTAGGAATGAAATGTCCCAAGGGGATTATGCCTGCATAGCCCTGAATGCCAGTCTGTGAGCCTCAGAAATGAAGATCTCCCATTTTATCCTTCATTATTCAGCCTGGAGTGTGATTAGAGATTAGGGAAGGGGCTTTTGGGAGAAAGCAGTCTAACTGGCCTTCTCTAAATCCGGTTGGAGGGGAGGAGAGAGCTTGGTGGCCCTCTGAAAGATGTTATTTTCTGTTCAGTACCATCTTCTGAAGGAAACTGGGTGTTCAGTACCATCTTCTGAAGGAAACTGGGAGCAAAGCGATGACGCCCTCGGCAGTCTTAGGAGACTCCAGACTTTGAGACATTAAGAGGATCTGGGAGACCCTGTACCTCTGCATCCAGTCTTGAGGCAGAACCAAGATGATAGAAGGTGGGGAGGGCAACATCCAAAGGCAAACAGAAGTTTGAATGAGGTGGCTTTCCCTGTAAGTCCTTATGTTCAGCCACCATTTTCACCTCTAAATTCTGGGTGCTAATTCAGGTTTCAGGGAAGAAGCTACTGCTGGGTCCAGTTGCAAAGGCCCGGGATCCCTTGCTTTCAAGTTAATGTTGGATTCTGCCGAGGTCCCTAACTTGGTACCTGGTCTCAGCGTGTAAAGAGCTGCTGCAGCTACATGCTGCTCCACTAGATGGCGGTCACAGTCCAGTTCTTTCCTTGGAGTTCAAGTCAGAAATTCCGCCATCCTTAAAGAGCCCCTTCTGTGGGCCTGCAGCCCGCAGGGCTCCTATATGAGGGGACGATGCCTGGGCAGTGGAATGGAAAGCACAGGCTCCTCAGATAATGTATACAAAGATGTCATCACAGCCTAACACGGTGAAAACCCGTCTCTACTAAAATACAAAAAATTAGCTGGGCCTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCCGGGCGACCGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAACCATCACAAAATTATCTGCAACTTGGAAACAATCTGCATGTTCATGAGTTGGGGAGTGAACTGTATGGTTGGATAATTCATAAAATGGAATTAACATGCAGTTAAAATGAATGAACTATATTTTTGTATATTAACATGGATAGACCTTGAAAAACACAATATTATGTAAAAAACTGTATGTACAGTATAATATCATTTATGTAAATCTTGAAAACACATAAACCCAGATACATATTTAAGAATCCAAAACCATGAACTGGAAGGATAGCTTCCAAATTCATGTGATTGCTTCTGTGGAGGGCAGGAAAGGAATGGAACAGGGCAGGAGATGAAAGATCTTCAACATTAAGTGTCGAGTCTTTATTTTATTCTTTAAATGATCAGATGCAAAAAGAATTATACTCGTGCTTATTCTGAGCTTATTTGATAGCACAGATAAGCCAATTTTAAAAATGAAAATCCATCTATAATCTCATCGTGCAGCGATAATCACTAATGGCTTAGTCTCCCAGCGTTACCATGTAAGTCTCATGAAGACAAGGACCTTCTTGATCTTGCTCATCCTGTACAATGCCTAGCACAGCCCTGATGTACAGCAAATGCCCAGCAAATATTCCTAGCAGGCAAATTAATATTCTTCCATGTTTTATAATACAAAAATTAGAATTGTATACAGCATACTATTTGTCATCTGATTTTTACAATTATCAATGCAATATGGGCTTTTTCCTATGCTCAGTAAATATATTTCTTCAATAACATTTTCCATGGTGATCTAATTTTGAAAAATCTTATCAGTAAACAAACATAAATGTTCCCACCTTCGTTCTTGAAAGAGTATATTACTATGTACATTAAGAACTTAATTAGATTTATTTAACCTGTCAGGTTGCTAGAATGTCTTGATTAACTCACTAAGATCCCAAAGTAGAAACTTTATTTGGCTTCTTTATGGAACAGAGGGGACAATGTATACTTCTAAGCCCTACGTTTCTGAATTATCATAAGAGTTCTAGAAAACAGCAGTATTGAAGGTCTTGTCTTTTGATTAAGTATTGGGGGTGTTATTTTTAAATGAAAAGTTTATTCTAGCAAAACTATCTTTATGCTGATATTGGACATATGAATCATAAATTTAAACAAGTGTTGACCCTGAACTTTGTTTTCAACAAAATAAAATGAACTCCAGTGGAGCTCTGAAATGACTGATGCCTTTATTTTTGAATGAATAATACACTTTTAAGTTCAGCCCTGTCAAAGACAAGAGACTTGGCTGGACGGGCAATTCCCAAAGCCAGTTCTAGGAGCCTTGGCTGGGTGGGAAATCAGTAGCAGGGACTCATGGCTCTGGCAGGAGCTGCTTTCATGAGGCAGCACACTTGAGGCAGGACTGTGTTGCTTTGGGCACTGTCTGCCTCTGTCTTGCTCCCAG
Seq C2 exon
GAGCTCACATCCAGTTCCTGAACTTCTCCACCGAGCCCAACCACGACTACATAGAAATCCGGAATGGCCCCTATGAGACCAGCCGCATGATGGGAAGATTCAGTGGAAGCGAGCTTCCAAGCTCCCTCCTCTCCACGTCCCACGAGACCACCGTGTATTTCCACAGCGACCACTCCCAGAATCGGCCAGGATTCAAGCTGGAGTATCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904:ENST00000241312:40
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=0.101
Domain overlap (PFAM):
C1:
PF0043115=CUB=PU(34.9=92.5)
A:
NA
C2:
PF0043115=CUB=PD(64.2=95.8)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
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