HsaINT0149190 @ hg38
Intron Retention
Gene
ENSG00000125731 | SH2D3A
Description
SH2 domain containing 3A [Source:HGNC Symbol;Acc:HGNC:16885]
Coordinates
chr19:6754616-6755315:-
Coord C1 exon
chr19:6754831-6755315
Coord A exon
chr19:6754732-6754830
Coord C2 exon
chr19:6754616-6754731
Length
99 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
3' ss Seq
TTCCCCATTCCCTTCTGCAGGCC
3' ss Score
10.05
Exon sequences
Seq C1 exon
AAGCCTCCACCATGCCCATATCTGCCTTGCCCCGAACGAGCAGTGACCCGGTGTTGCTGAAGGCCCCTGCTCCCCTGGGAACTGTTGCCGACAGTCTCAGGGCCTCCGATGGGCAGCTTCAAGCCAAGGCACCAACGAAGCCCCCCCGGACACCCTCCTTCGAACTGCCTGATGCCTCTGAACGTCCCCCGACGTACTGCGAGCTGGTGCCCCGAGTGCCCAGTGTCCAGGGAACATCCCCGAGCCAAAGCTGCCCAGAGCCAGAGGCCCCATGGTGGGAGGCCGAGGAGGATGAGGAGGAAGAGAATAGATGTTTTACAAGACCACAGGCTGAGATCTCTTTCTGCCCCCATGATGCCCCCTCCTGCCTGCTGGGCCCCCAGAATCGGCCCCTGGAACCCCAAGTCCTGCATACCCTCCGTGGCCTGTTCCTGGAGCACCATCCTGGGAGCACCGCCCTTCACCTGCTATTGGTAGACTGCCAG
Seq A exon
GTGGGTCACCTCCTGGGATGCTCCTCCCCAGGCCCAGGGCAAGACCCAACCATGCCTACATAATCACGCTTCACCTGACTTCCCCATTCCCTTCTGCAG
Seq C2 exon
GCCACAGGCCTCCTGGGAGTGACCAGAGATCAGCGGGGCAACATGGGAGTCTCATCTGGCCTGGAGCTGCTCACTCTTCCCCATGGACACCACTTGAGGTTGGAACTGCTGGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125731:ENST00000245908:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.672 A=NA C2=0.410
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0061714=RasGEF=PU(7.5=23.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCTTTCTGCCCCCATGATGC
R:
GCTGATCTCTGGTCACTCCCA
Band lengths:
182-281
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains