Special

HsaEX6071236 @ hg38

Exon Skipping

Gene
Description
atlastin GTPase 1 [Source:HGNC Symbol;Acc:HGNC:11231]
Coordinates
chr14:50591535-50595632:+
Coord C1 exon
chr14:50591535-50591639
Coord A exon
chr14:50593846-50593896
Coord C2 exon
chr14:50595576-50595632
Length
51 bp
Sequences
Splice sites
3' ss Seq
AATTTTATTTCTTTATCAAGGTA
3' ss Score
6.41
5' ss Seq
CAGGTAACA
5' ss Score
8.88
Exon sequences
Seq C1 exon
GTTGCAGTGTTATTGATGGATACTCAGGGAACCTTTGATAGTCAGTCAACTTTGAGAGATTCAGCCACAGTATTTGCCCTTAGCACAATGATCAGCTCAATACAG
Seq A exon
GTATATAACTTATCCCAAAATGTCCAGGAGGATGATCTTCAGCACCTCCAG
Seq C2 exon
CTTTTCACTGAGTATGGCAGACTGGCAATGGAGGAAACATTCCTGAAGCCATTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198513-'21-17,'21-15,23-17
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.015 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0226314=GBP=PU(38.7=96.7)
A:
PF0226314=GBP=FE(21.3=100)
C2:
PF0226314=GBP=FE(24.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAGTGTTATTGATGGATACTCAGG
R:
TTTCCTCCATTGCCAGTCTGC
Band lengths:
140-191
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains