Special

HsaINT0149193 @ hg19

Intron Retention

Gene
ENSG00000125731 | SH2D3A
Description
SH2 domain containing 3A [Source:HGNC Symbol;Acc:16885]
Coordinates
chr19:6753467-6754174:-
Coord C1 exon
chr19:6754063-6754174
Coord A exon
chr19:6753653-6754062
Coord C2 exon
chr19:6753467-6753652
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-SH2D3A:NM_005490:8
Average complexity
IR-S
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


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:
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