Special

HsaEX6063125 @ hg38

Exon Skipping

Gene
ENSG00000095370 | SH2D3C
Description
SH2 domain containing 3C [Source:HGNC Symbol;Acc:HGNC:16884]
Coordinates
chr9:127744564-127774467:-
Coord C1 exon
chr9:127774229-127774467
Coord A exon
chr9:127751222-127751300
Coord C2 exon
chr9:127744564-127745099
Length
79 bp
Sequences
Splice sites
3' ss Seq
TCTTGCTGTTTTCTACCCAGTTC
3' ss Score
8.47
5' ss Seq
GCAGCACGG
5' ss Score
-5.64
Exon sequences
Seq C1 exon
AGTTCTTCAAGTTCAAGGGCTTTGGGAGTCTCTCCAACCTCCCTCGGTCCTTCACTCTGAGACGATCCTCAGCTTCCATCAGTAGGCAGTCCCATTTGGAGCCTGACACCTTTGAAGCCACGCAGGATGACATGGTGACGGTGCCCAAGAGTCCCCCAGCCTATGCCCGCTCCAGTGACATGTACAGCCACATGGGCACCATGCCTCGCCCCAGCATCAAGAAAGCACAGAACTCACAG
Seq A exon
TTCTCCAAGGAGAAGTACATCCTGGACTCATCGCCAGAGAAACTCCACAAGGAATTGGAGGAGGAGCTCAAACTCAGCA
Seq C2 exon
TAACCCGTGTCCATGCCGCCCCTGCAGCCCCTTCTGCCACAGCATTGCCTGCCTCCCCTGTCGCCCGCCGTTCCAGTGAGCCCCAGCTGTGTCCCGGAAGTGCCCCAAAGACCCATGGGGAGTCAGACAAGGGCCCCCACACCAGCCCCTCCCACACCCTTGGCAAGGCCTCCCCGTCACCATCACTCAGCAGCTACAGTGACCCGGACTCTGGCCACTACTGCCAGCTCCAGCCTCCCGTGCGTGGCAGCCGAGAGTGGGCAGCGACTGAGACCTCCAGCCAGCAGGCCAGGAGCTATGGGGAGAGGCTAAAGGAACTGTCAGAAAATGGGGCCCCTGAAGGGGACTGGGGCAAGACCTTCACAGTCCCCATCGTGGAAGTCACTTCTTCCTTCAACCCGGCCACCTTCCAGTCACTACTGATCCCCAGGGATAACCGGCCACTGGAGGTGGGCCTTCTGCGCAAGGTCAAGGAGCTGCTGGCAGAAGTGGATGCCCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095370_MULTIEX1-5/7=C1-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.894 A=0.049 C2=0.649
Domain overlap (PFAM):

C1:
NO
A:
PF0001719=SH2=PU(9.9=18.6)
C2:
PF0061714=RasGEF=PU(11.3=9.5)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000314830fB25624


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCGCCCCAGCATCAAGAAAG
R:
CCTTGTCTGACTCCCCATGGG
Band lengths:
167-246
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains