HsaINT0036841 @ hg38
Intron Retention
Gene
ENSG00000092009 | CMA1
Description
chymase 1 [Source:HGNC Symbol;Acc:HGNC:2097]
Coordinates
chr14:24507356-24508265:-
Coord C1 exon
chr14:24508178-24508265
Coord A exon
chr14:24507507-24508177
Coord C2 exon
chr14:24507356-24507506
Length
671 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
3' ss Seq
CCTGGGGTGCTCTGTTCCAGGGG
3' ss Score
8.11
Exon sequences
Seq C1 exon
AGCATTTGCTCAGGCAGCCTCTCTGGGAAGATGCTGCTTCTTCCTCTCCCCCTGCTGCTCTTTCTCTTGTGCTCCAGAGCTGAAGCTG
Seq A exon
GTGAGTATCAGGGTTCTTCCCTCTGAAATCTGCAGTATCAGCTCCTGAAACAAAGATGTTTAGTCTGAAAATAGCTGACTCCTAAACAGGGTTCCAAGATCTCTCTTCAAGAGTCCCAGAGGGAAATTTCCACTTGGGATGTGTGCCACCCCACCCCCACCCCCACCCACTGCCATTCTCTACAGCCTAGGACAGCCCCCAGGAACAAGGAATTTCACCTCAATTGTAGAAAAGCCCAGAGCAAGTGGAAGGAAAAGGGGTATCCCCAGGAAAACAGACATGTCCTCTTAATCTTCTGAGCATCAGGGCTACCCATTACTTTGTGACTTTCTCACTCTGTGACCATGCTCAAGAGCTATGGAGAAATCTAAAACAGGAACCTGGACAGTGGGTCCTACACAGAGACAGAGGAGGGTGGGCCAGGGCAAGGTGGGAGTGGGAGAAGTCTGAGATGAAAACATCAGAATGGAGCAGAGGCAAGAATGAGATTTCACCTGGGAGGTTATGGGTGGGGAAAGATACGAAATACAGGAGACAGGAGAGGGAAGATGGGCGGAACACAGGGTGAGAATGAGATTCCAGGGAAGCCTAGCTCAGCTTTAACCCAATTTGTCCATTCATTGGAGAGAGTATCTATGGCCGTGTTCAAACCCTGGGGTGCTCTGTTCCAG
Seq C2 exon
GGGAGATCATCGGGGGCACAGAATGCAAGCCACATTCCCGCCCCTACATGGCCTACCTGGAAATTGTAACTTCCAACGGTCCCTCAAAATTTTGTGGTGGTTTCCTTATAAGACGGAACTTTGTGCTGACGGCTGCTCATTGTGCAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092009:ENST00000250378:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0008921=Trypsin=PU(21.9=94.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping 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:
GGCAGCCTCTCTGGGAAGAT
R:
TGCACAATGAGCAGCCGTC
Band lengths:
222-893
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