HsaINT0036844 @ hg38
Intron Retention
Gene
ENSG00000092009 | CMA1
Description
chymase 1 [Source:HGNC Symbol;Acc:HGNC:2097]
Coordinates
chr14:24505353-24506282:-
Coord C1 exon
chr14:24506028-24506282
Coord A exon
chr14:24505660-24506027
Coord C2 exon
chr14:24505353-24505659
Length
368 bp
Sequences
Splice sites
5' ss Seq
AAGGTGATC
5' ss Score
4.41
3' ss Seq
TCTCTCTCCTCCCCCTACAGGGA
3' ss Score
12.49
Exon sequences
Seq C1 exon
TTGAAGGAGAAAGCCAGCCTGACCCTGGCTGTGGGGACACTCCCCTTCCCATCCCAATTCAACTTTGTCCCACCTGGGAGAATGTGCCGGGTGGCTGGCTGGGGAAGAACAGGTGTGTTGAAGCCGGGCTCAGACACTCTGCAAGAGGTGAAGCTGAGACTCATGGATCCCCAGGCCTGCAGCCACTTCAGAGACTTTGACCACAATCTTCAGCTGTGTGTGGGCAATCCCAGGAAGACAAAATCTGCATTTAAG
Seq A exon
GTGATCCTCCAACTAGGTTTCCTCTCCAAAACTCACTGTTCAGGGACCAGAATGCTCTTAGAAGGAGATGGGGTCAGAAGGTTGTCAGTCAGTGACAGGGTGAGCATCACAGGAATTGCTGTCCTCCCGTGGTCCAAGACAGCCTCTGACCATCCATTCCAGTCTACTGCACTGGGGGCATGGGGTGATGTGGAGAATGTGGATGACGGTCCCAAGAAAGGAAGAAGGGGCATCAGAACTAGATGTATAAGTGAGGAGCTCCACCTCCTGCGTCTGACTTTAGGTCTCACTGTGACTCCAAGCTGGCTGGCAGACAGGAGTGGAGGACTTCCCGGGCTCACCTTCTTCTCTCTCTCCTCCCCCTACAG
Seq C2 exon
GGAGACTCTGGGGGCCCTCTTCTGTGTGCTGGGGTGGCCCAGGGCATCGTATCCTATGGACGGTCGGATGCAAAGCCCCCTGCTGTCTTCACCCGAATCTCCCATTACCGGCCCTGGATCAACCAGATCCTGCAGGCAAATTAATCCTGGATCCTGAGCCAGCCTGAAAGGGAAGCTGGAACTGGACCTGAGCAGCAAAGTGTGTGCCACTCATTCTGGTCTACCCTTGGTCCCTCAGCCACAACCCTAAGCCTCCAGAAGTATCCTACAGGTCACAGAACTCTCAATAAACCTCAGTGAAGACACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092009:ENST00000250378:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.006 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=FE(65.1=100)
A:
NA
C2:
PF0008921=Trypsin=PD(17.8=81.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGGAGAAAGCCAGCCTGAC
R:
GATTCGGGTGAAGACAGCAGG
Band lengths:
352-720
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