Special

HsaEX6035495 @ hg19

Exon Skipping

Gene
Description
hemicentin 1 [Source:HGNC Symbol;Acc:19194]
Coordinates
chr1:186113305-186114705:+
Coord C1 exon
chr1:186113305-186113475
Coord A exon
chr1:186113665-186113835
Coord C2 exon
chr1:186114535-186114705
Length
171 bp
Sequences
Splice sites
3' ss Seq
ACCTTTTTCCCTTATTCCAGTTC
3' ss Score
9.97
5' ss Seq
CAAGTGAGT
5' ss Score
9.1
Exon sequences
Seq C1 exon
TTCATGGAGCATGGAGCGCTTGGCAGCCTTGGGGAACATGCAGCGAAAGTTGTGGGAAAGGTACTCAGACAAGAGCAAGACTTTGTAATAACCCACCACCAGCGTTTGGTGGGTCCTACTGTGATGGAGCAGAAACACAGATGCAAGTTTGCAATGAAAGAAATTGTCCAA
Seq A exon
TTCATGGCAAGTGGGCGACTTGGGCCAGTTGGAGTGCCTGTTCTGTGTCATGTGGAGGAGGTGCCAGACAGAGAACAAGGGGCTGCTCCGACCCTGTGCCCCAGTATGGAGGAAGGAAATGCGAAGGGAGTGATGTCCAGAGTGATTTTTGCAACAGTGACCCTTGCCCAA
Seq C2 exon
CCCATGGTAACTGGAGTCCTTGGAGTGGCTGGGGAACATGCAGCCGGACGTGTAACGGAGGGCAGATGCGGCGGTACCGCACATGTGATAACCCTCCTCCCTCCAATGGGGGAAGAGCTTGTGGGGGACCAGACTCCCAGATCCAGAGGTGCAACACTGACATGTGTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'99-98,'99-97,100-98=AN
Average complexity
A_S
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=0.052
Domain overlap (PFAM):

C1:
PF0009014=TSP_1=WD(100=87.9)
A:
PF0009014=TSP_1=WD(100=87.9)
C2:
PF0009014=TSP_1=WD(100=87.9)


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:
ATGCAGCGAAAGTTGTGGGAA
R:
CACAAGCTCTTCCCCCATTGG
Band lengths:
257-428
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains