Special

HsaEX0043896 @ hg19

Exon Skipping

Gene
Description
N-ethylmaleimide-sensitive factor [Source:HGNC Symbol;Acc:8016]
Coordinates
chr17:44751780-44770434:+
Coord C1 exon
chr17:44751780-44751979
Coord A exon
chr17:44753102-44753151
Coord C2 exon
chr17:44770269-44770434
Length
50 bp
Sequences
Splice sites
3' ss Seq
CATATTTTTTTCATTGACAGTTT
3' ss Score
8.13
5' ss Seq
TAGGTAACC
5' ss Score
6.66
Exon sequences
Seq C1 exon
GTTGTAAACATGTTAAAGGCATCCTGTTATATGGACCCCCAGGTTGTGGTAAGACTCTCTTGGCTCGACAGATTGGCAAGATGTTGAATGCAAGAGAGCCCAAAGTGGTCAATGGGCCAGAAATCCTTAACAAATATGTGGGAGAATCAGAGGCTAACATTCGCAAACTTTTTGCTGATGCTGAAGAGGAGCAAAGGAGG
Seq A exon
TTTAAGAACAATGCCATGAGATTTCTGGTTCTAGCAATACAGTAGACTAG
Seq C2 exon
CTTGGTGCTAACAGTGGTTTGCACATCATCATCTTTGATGAAATTGATGCCATCTGCAAGCAGAGAGGGAGCATGGCTGGTAGCACGGGAGTTCATGACACTGTTGTCAACCAGTTGCTGTCCAAAATTGATGGCGTGGAGCAGCTAAACAACATCCTAGTCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000073969-'12-12,'12-11,13-12
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0000424=AAA=PU(41.5=88.1)
A:
PF0000424=AAA=PD(14.1=66.7)
C2:
PF0000424=AAA=FE(38.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGCTGATGCTGAAGAGGAGC
R:
CAGTGTCATGAACTCCCGTGC
Band lengths:
132-182
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
  • Pre-implantation embryo development