Special

HsaEX6086475 @ hg38

Exon Skipping

Gene
ENSG00000109686 | SH3D19
Description
SH3 domain containing 19 [Source:HGNC Symbol;Acc:HGNC:30418]
Coordinates
chr4:151128170-151133236:-
Coord C1 exon
chr4:151133034-151133236
Coord A exon
chr4:151132331-151132383
Coord C2 exon
chr4:151128170-151128356
Length
53 bp
Sequences
Splice sites
3' ss Seq
TGTTTGTTTTTTTAATGTAGGCA
3' ss Score
8.25
5' ss Seq
CAGGTAGGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
AGGCTCAAGATGTGTTGCTCGGTTTGAATATATTGGAGAGCAGAAGGATGAGTTGAGTTTCTCAGAGGGAGAAATTATTATTCTTAAAGAGTATGTGAATGAGGAATGGGCCAGAGGAGAAGTTCGAGGCAGAACTGGGATTTTCCCCCTGAACTTTGTGGAGCCTGTTGAGGATTATCCCACCTCTGGTGCAAATGTTTTAA
Seq A exon
GCACAAAGGTACCACTGAAAACCAAAAAAGAAGATTCTGGCTCAAACTCTCAG
Seq C2 exon
GTTAACAGTCTTCCGGCAGAATGGTGTGAAGCTCTTCACAGTTTTACAGCAGAGACCAGTGATGACTTATCATTCAAGAGGGGAGACCGGATCCAGATTCTGGAACGTCTGGATTCTGACTGGTGCAGGGGCAGACTGCAGGACAGGGAGGGGATCTTCCCAGCAGTGTTTGTGAGGCCCTGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109686_MULTIEX1-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.516 C2=0.000
Domain overlap (PFAM):

C1:
PF146041=SH3_9=WD(100=71.0)
A:
NO
C2:
PF0001823=SH3_1=WD(100=73.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
([1])
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATGAGGAATGGGCCAGAGGA
R:
TTCACACCATTCTGCCGGAAG
Band lengths:
136-189
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains