Special

HsaEX6035486 @ hg19

Exon Skipping

Gene
Description
hemicentin 1 [Source:HGNC Symbol;Acc:19194]
Coordinates
chr1:186143646-186157141:+
Coord C1 exon
chr1:186143646-186143774
Coord A exon
chr1:186151300-186151419
Coord C2 exon
chr1:186157015-186157141
Length
120 bp
Sequences
Splice sites
3' ss Seq
TCTGTCTTCTTCCTGAACAGATA
3' ss Score
10.8
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
Exon sequences
Seq C1 exon
ATATTGATGAATGTAAAGATGGGACCCATCAGTGCAGATATAACCAGATATGTGAGAATACAAGAGGCAGCTATCGTTGTGTATGCCCAAGAGGTTATCGGTCTCAAGGAGTTGGAAGACCCTGCATGG
Seq A exon
ATATTGATGAATGTGAAAATACAGATGCCTGCCAGCATGAGTGTAAGAATACCTTTGGAAGTTATCAGTGCATCTGCCCACCTGGCTATCAACTCACACACAATGGAAAGACATGCCAAG
Seq C2 exon
ATATCGATGAATGTCTGGAGCAGAATGTGCACTGTGGACCCAATCGCATGTGCTTCAACATGAGAGGAAGCTACCAGTGCATCGATACACCCTGTCCACCCAACTACCAACGGGATCCTGTTTCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'113-115,'113-114,116-115=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF126622=cEGF=PU(83.3=48.8)
C2:
PF126622=cEGF=PD(12.5=7.0),PF129472=EGF_3=WD(100=83.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATGAATGTAAAGATGGGACCCA
R:
GATCCCGTTGGTAGTTGGGTG
Band lengths:
242-362
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains