Special

HsaEX0057148 @ hg38

Exon Skipping

Gene
ENSG00000092421 | SEMA6A
Description
semaphorin 6A [Source:HGNC Symbol;Acc:HGNC:10738]
Coordinates
chr5:116477846-116478718:-
Coord C1 exon
chr5:116478542-116478718
Coord A exon
chr5:116478014-116478154
Coord C2 exon
chr5:116477846-116477926
Length
141 bp
Sequences
Splice sites
3' ss Seq
ATCTTGCCTGATGAAATTAGATG
3' ss Score
1.63
5' ss Seq
AAAGTATGT
5' ss Score
6.93
Exon sequences
Seq C1 exon
ATACCGCCTTACCAAAATTGCAGTGGACACAGCTGCTGGGCCATATCAGAATCACACTGTGGTTTTTCTGGGATCAGAGAAGGGAATCATCTTGAAGTTTTTGGCCAGAATAGGAAATAGTGGTTTTCTAAATGACAGCCTTTTCCTGGAGGAGATGAGTGTTTACAACTCTGAAAA
Seq A exon
ATGCAGCTATGATGGAGTCGAAGACAAAAGGATCATGGGCATGCAGCTGGACAGAGCAAGCAGCTCTCTGTATGTTGCGTTCTCTACCTGTGTGATAAAGGTTCCCCTTGGCCGGTGTGAACGACATGGGAAGTGTAAAAA
Seq C2 exon
AACCTGTATTGCCTCCAGAGACCCATATTGTGGATGGATAAAGGAAGGTGGTGCCTGCAGCCATTTATCACCCAACAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092421-'34-40,'34-39,36-40=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=0.000
Domain overlap (PFAM):

C1:
PF0140314=Sema=FE(13.5=100)
A:
PF0140314=Sema=PD(3.4=31.2),PF0143720=PSI=PU(13.6=18.8)
C2:
PF0143720=PSI=FE(40.9=100)


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:
CGCCTTACCAAAATTGCAGTGG
R:
TGGGTGATAAATGGCTGCAGG
Band lengths:
247-388
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development