HsaINT0036842 @ hg38
Intron Retention
Gene
ENSG00000092009 | CMA1
Description
chymase 1 [Source:HGNC Symbol;Acc:HGNC:2097]
Coordinates
chr14:24506469-24507506:-
Coord C1 exon
chr14:24507356-24507506
Coord A exon
chr14:24506605-24507355
Coord C2 exon
chr14:24506469-24506604
Length
751 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
3' ss Seq
TTCCTTCTTCCTCACAACAGGTC
3' ss Score
10.62
Exon sequences
Seq C1 exon
GGGAGATCATCGGGGGCACAGAATGCAAGCCACATTCCCGCCCCTACATGGCCTACCTGGAAATTGTAACTTCCAACGGTCCCTCAAAATTTTGTGGTGGTTTCCTTATAAGACGGAACTTTGTGCTGACGGCTGCTCATTGTGCAGGAAG
Seq A exon
GTGAGACAACAGGGTCTATTTATCTCCAAATGGGAGATGAACAACCAGAGTAGCATCCAGGAATACACCTGCACTGGGGACTGAAGAGGGGGTCCTGGGTCTTGTCAACTTTCAGGAGAGGGAAGACTTGGGCTGAAAGACTTTAGTCTGTGTTTGAATAGTTCCTTGAGCCTCAGTCACTGTGAGCTAAGCTCCCCTTCGGAGGAAAAGGAGGTCCTGTCCAAGGTCCCTCTTGTTGCAGTAGCACCCCTCACCCCTACCCAACTCAAGACACACGGCTCACTTTTCAGGGCCCCACCCAGTCTCAGGGCCACTTCCTCTATGGCCTTTTCAAGAACACTGGCCTCTAGTTCTCAGGGTCCTGAACCCATCATTTTATGGGAGGCAGAGAACAGGGTCTACATGAGACCCCCACTTTCCCGTTTAACTGATATCTCCTGCTTCAGGGGCTGGCCCTCATGCAGGGTTCCCTGAATTAGGAAGTGTGAACCCTGTCCCCTGAGTCCTCCCTGGCCTGTTCAGTCCCCAGCAATTCCAGGGGTCGTAGAAATTGTGTCTGTTTCCTGAGAAAGCTCTTTCATGAGTTAAGCCTGAGCCCTCAAATGCCACAAGTGGCCCATGAAAAGGGAGATGGGTAGAGTCCGGCGACCCAGTGACAGAGTTTAGTCCTCTTTTCTCAGAATGAGCTCACCTCAGAAGAAACCCCAAGCCATCACTGTCGCTCCTTTTCCTTCCTTCTTCCTCACAACAG
Seq C2 exon
GTCTATAACAGTCACCCTTGGAGCCCATAACATAACAGAGGAAGAAGACACATGGCAGAAGCTTGAGGTTATAAAGCAATTCCGTCATCCAAAATATAACACTTCTACTCTTCACCACGATATCATGTTACTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092009:ENST00000250378:2
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:
PF0008921=Trypsin=PU(21.9=94.1)
A:
NA
C2:
PF0008921=Trypsin=PU(2.3=75.0)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGATCATCGGGGGCACAG
R:
CTTTAGTAACATGATATCGTGGTGAA
Band lengths:
286-1037
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