Special

HsaEX6035573 @ hg19

Exon Skipping

Gene
Description
hemicentin 1 [Source:HGNC Symbol;Acc:19194]
Coordinates
chr1:185878469-185891631:+
Coord C1 exon
chr1:185878469-185878640
Coord A exon
chr1:185880806-185880912
Coord C2 exon
chr1:185891511-185891631
Length
107 bp
Sequences
Splice sites
3' ss Seq
CTTTATGTTCTGTCTTTCAGGGA
3' ss Score
12.39
5' ss Seq
AAGGTACGG
5' ss Score
10.26
Exon sequences
Seq C1 exon
GTATTAAAATGGGTAGAAGAAGCAGTACAGGCCTCCAAAGTTCACCTTTTATCCACAGATCATTTGGAACAGGCTGTAAATACTTGGAGAATTCCTTTTGATCCCAGCCTGAAAGAGGTCACTGTGTCTTTGAGTGGGCCTTCTCCAATGATTGAAATTCGCAATCCTTTAG
Seq A exon
GGAAGCTGATAAAAAAGGGATTTGGCCTGCATGAGCTATTAAATATCCATAACTCTGCCAAAGTAGTGAATGTGAAAGAGCCAGAGGCTGGAATGTGGACAGTGAAG
Seq C2 exon
ACCTCAAGCAGTGGAAGGCACTCTGTTCGCATTACTGGCCTCAGTACTATTGATTTCCGAGCTGGCTTTTCTCGAAAGCCCACCCTGGACTTCAAAAAAACAGTCAGCAGACCAGTGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'7-8,'7-7,8-8=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=0.056 C2=0.000
Domain overlap (PFAM):

C1:
PF135191=VWA_2=PD(2.3=6.9)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAGCAGTACAGGCCTCCAA
R:
TTTTTGAAGTCCAGGGTGGGC
Band lengths:
253-360
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains