Special

HsaEX6066554 @ hg19

Exon Skipping

Gene
Description
chymotrypsin-like elastase family, member 1 [Source:HGNC Symbol;Acc:3308]
Coordinates
chr12:51737537-51740463:-
Coord C1 exon
chr12:51740407-51740463
Coord A exon
chr12:51739579-51739661
Coord C2 exon
chr12:51737537-51737637
Length
83 bp
Sequences
Splice sites
3' ss Seq
TTTTCTTCTGCCCCACAAAGGAC
3' ss Score
6.39
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
TTGGTCCAAGCAAGAAGGCAGTGGTCTACTCCATCGGCAACATGCTGGTCCTTTATG
Seq A exon
GACACAGCACCCAGGACCTTCCGGAAACCAATGCCCGCGTAGTCGGAGGGACTGAGGCCGGGAGGAATTCCTGGCCCTCTCAG
Seq C2 exon
ATTTCCCTCCAGTACCGGTCTGGAGGTTCCCGGTATCACACCTGTGGAGGGACCCTTATCAGACAGAACTGGGTGATGACAGCTGCTCACTGCGTGGATTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139610-'0-1,'0-0,1-1=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=0.321 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0008921=Trypsin=PU(6.0=50.0)
C2:
PF0008921=Trypsin=FE(14.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGGTCCAAGCAAGAAGGCAG
R:
CGCAGTGAGCAGCTGTCATC
Band lengths:
151-234
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains