Special

HsaEX6063479 @ hg19

Exon Skipping

Gene
Description
hemicentin 2 [Source:HGNC Symbol;Acc:21293]
Coordinates
chr9:133300396-133302762:+
Coord C1 exon
chr9:133300396-133300517
Coord A exon
chr9:133301074-133301311
Coord C2 exon
chr9:133302700-133302762
Length
238 bp
Sequences
Splice sites
3' ss Seq
CCCTCCTCTTCATCCTGCAGGAC
3' ss Score
12.42
5' ss Seq
CGGGTGAGG
5' ss Score
8.48
Exon sequences
Seq C1 exon
GGGAGCTGCTCACGATGACCCAGGTGGCCCGGGGTCTGGATCCCGATGGCCTCCTGCTCCTCGACGTGGTGGTCAATGGCGTTGTCCCCGAGAGCCTGGCTGACGCAGATCTTCAAGTGCAG
Seq A exon
GACTTTGAGGAGCACTACGTGCAAACAGGGCCTGGCCAGCTGTTCGTGGGCTCCACACAGCGCTTCTTCCAGGGCGGCCTCCCCTCGTTCCTACGCTGCAACCACAGCATCCAGTACAACGCGGCCCGGGGCCCCCAGCCCCAGCTGGTGCAGCACCTGCGGGCCTCAGCTATCAGCTCGGCCTTTGATCCAGAGGCCGAGGCCCTGCGCTTCCAGCTCGCTACAGCCCTGCAGGCGG
Seq C2 exon
AGGAGAACGAGGTCGGCTGCCCCGAGGGCTTTGAGCTGGACTCCCAGGGAGCGTTTTGTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'52-52,'52-51,53-52=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:
PF074747=G2F=FE(21.3=100)
A:
PF074747=G2F=PD(26.1=61.2)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCTCACGATGACCCAGGT
R:
CCACACAAAACGCTCCCTGG
Band lengths:
180-418
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains