Special

HsaEX6066558 @ hg19

Exon Skipping

Gene
Description
chymotrypsin-like elastase family, member 1 [Source:HGNC Symbol;Acc:3308]
Coordinates
chr12:51723468-51735164:-
Coord C1 exon
chr12:51735028-51735164
Coord A exon
chr12:51733644-51733789
Coord C2 exon
chr12:51723468-51723617
Length
146 bp
Sequences
Splice sites
3' ss Seq
ATGCCGTGTGTCCTGTTCAGCCA
3' ss Score
7.05
5' ss Seq
CAGGTGAAC
5' ss Score
5.56
Exon sequences
Seq C1 exon
CTATGACATCGCCCTGCTGCGCCTGGCCCAGAGCGTTACCCTCAATAGCTATGTCCAGCTGGGTGTTCTGCCCCAGGAGGGAGCCATCCTGGCTAACAACAGTCCCTGCTACATCACAGGCTGGGGCAAGACCAAGA
Seq A exon
CCAATGGGCAGCTGGCCCAGACCCTGCAGCAGGCTTACCTGCCCTCTGTGGACTACGCCATCTGCTCCAGCTCCTCCTACTGGGGCTCCACTGTGAAGAACACCATGGTGTGTGCTGGTGGAGATGGAGTTCGCTCTGGATGCCAG
Seq C2 exon
GGTGACTCTGGGGGCCCCCTCCATTGCTTGGTGAATGGCAAGTATTCTGTCCATGGAGTGACCAGCTTTGTGTCCAGCCGGGGCTGTAATGTCTCCAGGAAGCCTACAGTCTTCACCCAGGTCTCTGCTTACATCTCCTGGATAAATAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139610-'4-5,'4-4,5-5=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0008921=Trypsin=FE(19.7=100)
A:
PF0008921=Trypsin=FE(20.6=100)
C2:
PF0008921=Trypsin=PD(20.2=94.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CTATGACATCGCCCTGCTGC
R:
CCTGGGTGAAGACTGTAGGCT
Band lengths:
258-404
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains