Special

HsaEX0057988 @ hg38

Exon Skipping

Gene
ENSG00000109686 | SH3D19
Description
SH3 domain containing 19 [Source:HGNC Symbol;Acc:HGNC:30418]
Coordinates
chr4:151159240-151175674:-
Coord C1 exon
chr4:151174670-151175674
Coord A exon
chr4:151165589-151165696
Coord C2 exon
chr4:151159240-151159352
Length
108 bp
Sequences
Splice sites
3' ss Seq
TAAACTATGTTTTTCATTAGATC
3' ss Score
6.33
5' ss Seq
AATGTAAGC
5' ss Score
6.12
Exon sequences
Seq C1 exon
TGGAGAGTGGGACTCTGGGACTGAGAACAGACTCAAGGTGACCTCCAAGGAAGGACTCACCCCATACCCTCCCCTGCAAGAAGCGGGAAGCATCCCAGTAACCAAACCTGAATTGCCAAAGAAACCAAACCCTGGCCTTATACGAAGTGTTAATCCTGAGATTCCGGGAAGAGGGCCCCTGGCTGAGAGCTCTGATAGTGGGAAGAAAGTGCCAACTCCTGCCCCGCGGCCTTTGCTGCTGAAGAAATCTGTTTCCTCAGAAAACCCCACCTACCCTTCAGCTCCACTGAAACCTGTCACTGTTCCTCCCCGACTCGCAGGGGCATCACAAGCCAAAGCATACAAGTCACTGGGAGAAGGGCCCCCAGCCAACCCCCCAGTTCCAGTTCTGCAGAGCAAGCCCTTGGTGGACATCGATCTCATCAGCTTTGATGATGATGTTTTGCCCACCCCATCGGGGAACCTGGCTGAAGAATCTGTTGGTTCAGAGATGGTTCTAG
Seq A exon
ATCCCTTTCAGCTCCCTGCAAAAACAGAACCAATAAAAGAACGAGCAGTTCAACCAGCACCCACCAGGAAGCCCACTGTAATTCGAATTCCAGCCAAACCAGGAAAAT
Seq C2 exon
GTTTACATGAGGATCCACAAAGTCCACCTCCTCTCCCTGCTGAAAAACCTATTGGAAACACTTTCAGTACAGTATCTGGAAAGCTCAGTAATGTTGAGAGAACTAGAAACTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109686_MULTIEX3-2/6=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.950 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
HIGH PSI
([1])
Zebrafish
(danRer10)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACCTGTCACTGTTCCTCCCC
R:
GGGAGAGGAGGTGGACTTTGT
Band lengths:
247-355
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development