HsaINT0149193 @ hg38
Intron Retention
Gene
ENSG00000125731 | SH2D3A
Description
SH2 domain containing 3A [Source:HGNC Symbol;Acc:HGNC:16885]
Coordinates
chr19:6753456-6754163:-
Coord C1 exon
chr19:6754052-6754163
Coord A exon
chr19:6753642-6754051
Coord C2 exon
chr19:6753456-6753641
Length
410 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
3' ss Seq
CAGACCCTCCCCCTCCGCAGGAC
3' ss Score
9.49
Exon sequences
Seq C1 exon
GTGTCCCGGTTGGAGCACACGTGGCGCCAGCTCCGAAGGAGCCACACGGAGGCTGCGCTGGCCTTTGAGCAGGAGCTGAAGCCGCTGATGCGGGCTCTGGATGAGGGCGCTG
Seq A exon
GTAAGTGAAGGTCTGGGGCTTAGCATCCCCTGGGGGCCCAGACCAAATTTAACAGGACTCAATCTAGTCCTATGCCCAGTCCCTGCATCTGTTCTAGGCCCGGTCCCTTCACCATAGGCCCCGCCCTCCACATGAGGGTTGGTCCTGGCCCTTTCCCTAGGCCCCGCCCTCCACACGAGACTTGTTCCTAGGCCACGCCCCCACCAGCCTTGGTCCCAGCCCCTTTCCCTAGGCTACGCCCCTTCGCCATAGGCCCCGCCCTCCATACGGGGCGTGTGGTCCTGGCCCCTCTCCACAGACCCCGCTGTCGCTCAGTCCTAAGCCCCGCCCCTGCATTTGTCCTAGGTTCCACCTCTGCCCTATGCCCCATCTACAGCCCCAAACCCTGATCAGACCCTCCCCCTCCGCAG
Seq C2 exon
GACCCTGCGACCCCGGCGAGGTGGCGCTGCCGCACGTGGCACCCATGGTTCGCCTACTGGAGGGCGAGGAAGTCGCGGGGCCGCTGGACGAGAGCTGTGAGCGGCTGTTGCGCACCCTGCACGGGGCGCGTCACATGGTCCGGGACGCACCCAAATTCCGCAAGGTGGCAGCCCAGCGCCTGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125731:ENST00000245908:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.100 A=NA C2=0.103
Domain overlap (PFAM):
C1:
PF0061714=RasGEF=FE(30.8=100)
A:
NA
C2:
PF0061714=RasGEF=PD(11.7=22.2)
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:
TGTCCCGGTTGGAGCACA
R:
CCACCTTGCGGAATTTGGGT
Band lengths:
279-689
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains