HsaINT0042195 @ hg38
Intron Retention
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:33571532-33572691:-
Coord C1 exon
chr1:33572506-33572691
Coord A exon
chr1:33571727-33572505
Coord C2 exon
chr1:33571532-33571726
Length
779 bp
Sequences
Splice sites
5' ss Seq
TCCGTGAGT
5' ss Score
8.93
3' ss Seq
TCTTTTCCTCATTTCCCCAGCTG
3' ss Score
9.14
Exon sequences
Seq C1 exon
CTCTTTCCTGTGGGCTTCCTGAGGCCCCCAAGAATGGAATGGTGTTTGGCAAGGAGTACACAGTGGGAACCAAGGCCATGTACAGCTGCAGTGAAGGCTACCACCTCCAGGCAGGCGCTGAGGCCACTGCAGAGTGTCTGGACACAGGCCTATGGAGCAACCGCAATGTCCCACCACAGTGTGTCC
Seq A exon
GTGAGTCCTCGGGCAATGGAGGCGGGTGTAAGGAAGGGCTAGGTAGGCAGCTGGAAAGATTCCTGCAAGGAGTGAGCTAAAAGCAAAGTAATGAGGGGGAAAAAAAAAAAAAAACATGGACATGGAGGTTGGAGGATTTCAGAAGAGGAGGCAGGTGCTGAAACTGCTCTCAGCATTGATAACCATTGTGCCCTAAGATGTTTCCACAAACCACCATGGAACTTAGGAATGGCCTGGTCCACTCCCTTTTAGATGGAAAACCTGTCAGAAAGTTTGCATGAATGTCCCTTGATTCCAAAGCTCTAAAAACAACAACTTTTAGGCCAGATCACAAAATGGCAACCTCCTCGACTATGTCCCATCCAAAGACAGAGGTTTTTGTTTTGTTTTGTTTTTTGGCCTACACGGTGCTTTATAACAAATTTTGAATTACTCCACAATCTTTTAAAATCAAGAAATTTTACATTAAAATCCAGATTTCTGTCTTCTCTTGAAAAATGAAAATCTAATCAAATGCAACTCAAACATTCAATAGTCAACCTTGACTGAGTACTATTTCCCTTTTTTAATTTTTAATTTTTTAGCAGAACTGTACTCCCCAGTTTGCCACATCCCCCACCCAACCCACCTGTTCATTTACCAAACCTGCCTGAGAACTGAAGATTCCTGGATTCTTCATTATTGCATTAAGGTCTCCAAGTCCCTAGATCTGGGCTCTTACAAGGTCTTCCAGAATTAATCAAGTAATTAATCCTCCTTTCTTTTCCTCATTTCCCCAG
Seq C2 exon
CTGTGACTTGTCCTGATGTCAGTAGCATCAGCGTGGAGCATGGCCGATGGAGGCTTATCTTTGAGACACAGTATCAGTTCCAGGCCCAGCTGATGCTCATCTGTGACCCTGGCTACTACTATACTGGCCAAAGGGTCATCCGCTGTCAGGCCAATGGCAAATGGAGCCTCGGGGACTCTACGCCCACCTGCCGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904:ENST00000241312:51
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=WD(100=92.1),PF0008415=Sushi=PU(1.5=1.6)
A:
NA
C2:
PF0008415=Sushi=PD(96.9=95.5)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCCTGAGGCCCCCAAGAAT
R:
TAGAGTCCCCGAGGCTCCATT
Band lengths:
352-1131
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