Special

HsaINT0158406 @ hg19

Intron Retention

Gene
ENSG00000197694 | SPTAN1
Description
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) [Source:HGNC Symbol;Acc:11273]
Coordinates
chr9:131392600-131394602:+
Coord C1 exon
chr9:131392600-131392654
Coord A exon
chr9:131392655-131394405
Coord C2 exon
chr9:131394406-131394602
Length
1751 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
3' ss Seq
TGTGCTCCCCACCCCTGCAGCGC
3' ss Score
10.35
Exon sequences
Seq C1 exon
GTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAA
Seq A exon
GTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCTCTCTCTTTTCTTTCTTTCTTCATGGAATCTCTCTCTCGCCCAGGCTGGAGTGCAGTGGTGCGATATTGGCTCACTGCAACCTCCACCTCCCAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCAAATAGCTGTACTACAGATGTGTGCCACCACATTTGGCTAATTTTTGTTTATTTTTAATTATCTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGACGTGGTCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATCCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCTGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCCTAGTTTTTATATTTTTAGTAGAGACAGTGTTTTGCCTTGTTGGCCAGGCCGGTCTGGAACTCCTGATCTCCAGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCCCGGCCGAGGGCTCTTCACTTTAAAGAAAGTCTTTGGGGCTGGGTGTGGTGACTTACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATTGCTTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGATTCTGGGATGCGGAGGTTGCAGTGACCCGAGATCAGGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCCTCTGAAAAAAATTACTTGGGCATGGTGGCCTACACCTGCTCAAAGTCCAGCATGGGCAATATATAGCAAGACCTTGTCTTAAAAATAAGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCAAGACAGGCAGATCACTTGAGCCTAGGAATTCAAGACCAGCCTGGTCAATGCAGTGAAACATCGCCTCTACTAAAAATACAAAAATTAGGCAGGTGTGGTGATGGGCACCTGTTAGTTCCAGCTACTCAGGAGATTGAGGCAGGAGAATCACTTGAACCCGGGAGGTTGCAGTGAGCGTGATTGCGCCACTGCACTCTAGCCTAGGCGACAGTGAGACTCCATCTCAAAAAAATTTATAAAAATCTTTGGCCACTGCTTCCTGGAGTCCTCGCCGTACTTGTCCTTGGCGTGCACTGCCCTCTGGCAGGTCTACCAGCTGCTTTGGAACCCTCACATTGAAAGTCTCTCCCTCTATTGAGGTGGTTGGGATTTCTTCAGCTTCACCCCATCCCACTATTCCTATTCTAGAATGTTCTTGTTTTACGAGGTCTCAGGCCAGGCCTGGAGCAGGAACCAGAGGGCAGTAAGTGGCTCCTGGGCTGGTGACTGAGCTGAGGGCCCCCGTCTGAGCATCTGTGCTCCCCACCCCTGCAG
Seq C2 exon
CGCAAGCACCAGGAAATCCGAGCCATGAGAAGTCAGCTCAAAAAGATCGAGGACCTGGGGGCCGCCATGGAGGAGGCCCTCATCCTGGACAACAAGTACACGGAGCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197694-SPTAN1:NM_001130438:52
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.561 A=NA C2=0.298
Domain overlap (PFAM):

C1:
PF0043516=Spectrin=FE(17.0=100)
A:
NA
C2:
PF0043516=Spectrin=PD(56.6=90.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TATGGTGGAAGAGTCGGGGAC
R:
CTGGCCTGGATCTGCTGCTC
Band lengths:
246-1997
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains