Special

HsaEX6035569 @ hg19

Exon Skipping

Gene
Description
hemicentin 1 [Source:HGNC Symbol;Acc:19194]
Coordinates
chr1:185894179-185902956:+
Coord C1 exon
chr1:185894179-185894323
Coord A exon
chr1:185897678-185897799
Coord C2 exon
chr1:185902681-185902956
Length
122 bp
Sequences
Splice sites
3' ss Seq
TTCCATTTTCTTACCTCCAGAGA
3' ss Score
9.32
5' ss Seq
CAGGTAATT
5' ss Score
8.55
Exon sequences
Seq C1 exon
ATGCTCCCAAAGTTACGATGCCTGAGAAAACCCCAGGATACTATCTGCAGCCGGGCCAAATTCCCTGCTCTGTTGACAGTCTTTTGCCCTTTACCTTGAGCTTTGTCAGAAATGGAGTTACACTTGGAGTAGACCAGTATTTGAA
Seq A exon
AGAATCTGCCAGTGTGAACTTAGATATTGCAAAGGTCACTTTGTCTGACGAAGGTTTCTATGAATGCATTGCTGTCAGCAGTGCAGGTACTGGACGGGCACAGACATTTTTTGACGTATCAG
Seq C2 exon
AGCCCCCTCCGGTCATCCAAGTGCCTAACAATGTTACAGTCACTCCTGGAGAGAGAGCAGTTTTAACATGTCTCATCATCAGTGCGGTGGATTACAATCTAACCTGGCAGAGGAATGACAGAGATGTCAGACTGGCAGAGCCAGCGAGAATTAGGACCTTGGCTAATCTGTCATTGGAGCTAAAGAGTGTGAAATTCAACGATGCTGGAGAGTATCATTGTATGGTTTCTAGTGAAGGTGGATCATCAGCCGCTTCAGTTTTCCTCACAGTGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'11-12,'11-11,12-12=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=0.020 A=0.000 C2=0.043
Domain overlap (PFAM):

C1:
PF0004720=ig=PU(55.4=63.3)
A:
PF0004720=ig=PD(42.9=57.1)
C2:
PF0767911=I-set=WD(100=95.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCAAATTCCCTGCTCTGTT
R:
AGGTCCTAATTCTCGCTGGCT
Band lengths:
251-373
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains