Special

HsaEX6035577 @ hg19

Exon Skipping

Gene
Description
hemicentin 1 [Source:HGNC Symbol;Acc:19194]
Coordinates
chr1:185703683-185833760:+
Coord C1 exon
chr1:185703683-185704179
Coord A exon
chr1:185815158-185815228
Coord C2 exon
chr1:185833602-185833760
Length
71 bp
Sequences
Splice sites
3' ss Seq
TGTTATTTTTATCTTCACAGAAA
3' ss Score
9.74
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GAAGCCGCATCCAGACAAAAGCTGCCGCATCCCTGCCCTGCCCAACCCCTGGAGGGATTCGAGTTTGGTGCTTGTCCCCGTCTGATTCTCAGCGCCAAACTTTTTGCTAGTTCAGAGATTCCAAGAGTCTGATGAGTTACTCTGAGAGGAAACCCTCTGCCTGTTGTTGAGGAGGACTGAGCACAGTGCTTAGGCGCTGAGGGGGAAAAAGAGGGGGAAAAAAAAGAAAATGATTTCCTGGGAAGTTGTCCATACAGTATTCCTGTTTGCTCTTCTTTATTCTTCCCTAGCTCAAGATGCGAGCCCCCAGTCAGAGATCAGAGCTGAGGAAATTCCCGAGGGGGCCTCCACGTTGGCTTTTGTGTTTGATGTGACTGGTTCTATGTATGATGATTTAGTTCAGGTGATTGAAGGGGCTTCCAAAATTTTGGAGACGTCTTTGAAAAGACCTAAAAGACCTCTTTTCAACTTTGCGTTGGTGCCTTTCCATGATCCAG
Seq A exon
AAATTGGCCCAGTGACAATTACCACAGATCCCAAGAAATTTCAATATGAACTCAGAGAACTGTATGTTCAG
Seq C2 exon
GGTGGTGGTGATTGCCCAGAAATGAGTATTGGAGCTATAAAAATTGCCTTGGAAATTTCTCTTCCTGGTTCTTTCATCTATGTTTTCACTGATGCTCGGTCCAAAGATTACCGGCTCACCCATGAGGTGCTGCAACTTATCCAACAGAAACAGTCACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'0-2,'0-1,2-2=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=0.056 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF135191=VWA_2=PU(28.5=54.4)
A:
PF135191=VWA_2=FE(13.4=100)
C2:
PF135191=VWA_2=FE(30.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCCACGTTGGCTTTTGTGT
R:
TTTCTGGGCAATCACCACCAC
Band lengths:
175-246
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains