Special

HsaINT0149191 @ hg19

Intron Retention

Gene
ENSG00000125731 | SH2D3A
Description
SH2 domain containing 3A [Source:HGNC Symbol;Acc:16885]
Coordinates
chr19:6754262-6754742:-
Coord C1 exon
chr19:6754627-6754742
Coord A exon
chr19:6754437-6754626
Coord C2 exon
chr19:6754262-6754436
Length
190 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
3' ss Seq
CTTGCCCTCCACCTCTGCAGGCA
3' ss Score
9.79
Exon sequences
Seq C1 exon
GCCACAGGCCTCCTGGGAGTGACCAGAGATCAGCGGGGCAACATGGGAGTCTCATCTGGCCTGGAGCTGCTCACTCTTCCCCATGGACACCACTTGAGGTTGGAACTGCTGGAGAG
Seq A exon
GTGAGCCAGCAGCTTGTAATCTTGGTTGGGGGAGGCCAATTCCCCCCACTTCCCAAGATCTCCAAACAGCTCCCCACTCATGGTTCCCCAGGGAAGAAGGGAGATGGGGCAATGCCACCTCCTGTCCCCCCTCACCCCTGCATTACAAACCTCCCCACTTCCCCCAGACCCTTGCCCTCCACCTCTGCAG
Seq C2 exon
GCATCAGACACTGGCGCTGGCCGGGGCGCTGGCGGTGCTGGGCTGCTCGGGGCCGCTGGAGGAGCGCGCAGCCGCACTGAGGGGACTGGTAGAGCTGGCGCTGGCGCTGCGGCCAGGGGCGGCGGGGGACCTGCCCGGGCTGGCTGCAGTCATGGGCGCCCTGCTCATGCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125731-SH2D3A:NM_005490:6
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.115 A=NA C2=0.040
Domain overlap (PFAM):

C1:
PF0061714=RasGEF=PU(7.5=23.1)
A:
NA
C2:
PF0061714=RasGEF=FE(48.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGAGTGACCAGAGATCAGC
R:
CATGACTGCAGCCAGCCC
Band lengths:
257-447
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