Special

HsaEX0057148 @ hg19

Exon Skipping

Gene
ENSG00000092421 | SEMA6A
Description
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A [Source:HGNC Symbol;Acc:10738]
Coordinates
chr5:115813542-115814414:-
Coord C1 exon
chr5:115814238-115814414
Coord A exon
chr5:115813710-115813850
Coord C2 exon
chr5:115813542-115813622
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
ATGCAGCTATGATGGAGTCGAAGACAAAAGGATCATGGGCATGCAGCTGGACAGAGCAAGCAGCTCTCTGTATGTTGCGTTCTCTACCTGTGTGATAAAGGTTCCCCTTGGCCGGTGTGAACGATATGGGAAGTGTAAAAA
Seq C2 exon
AACCTGTATTGCCTCCAGAGACCCATATTGTGGATGGATAAAGGAAGGTGGTGCCTGCAGCCATTTATCACCCAACAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092421-'22-25,'22-24,24-25
Average complexity
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=PU(73.8=97.8)
A:
PF0140314=Sema=PD(24.6=31.2),PF0143720=PSI=PU(15.3=18.8)
C2:
PF0143720=PSI=FE(40.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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