Special

HsaEX0006691 @ hg38

Exon Skipping

Gene
Description
atlastin GTPase 2 [Source:HGNC Symbol;Acc:HGNC:24047]
Coordinates
chr2:38315284-38343512:-
Coord C1 exon
chr2:38343268-38343512
Coord A exon
chr2:38318535-38318639
Coord C2 exon
chr2:38315284-38315334
Length
105 bp
Sequences
Splice sites
3' ss Seq
TTAAACTCTCAAATTCCTAGGTT
3' ss Score
7.3
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GTGAGAATTATGAAGATGATGACCTAGTAAATTCTGATGAGGTTATGAAGAAACCATGTCCAGTACAGATTGTTCTTGCTCATGAAGATGACCATAACTTTGAACTTGATGAAGAAGCTTTGGAGCAGATATTGCTACAGGAGCACATACGAGATCTTAACATAGTAGTGGTATCTGTGGCAGGAGCTTTTCGTAAAGGGAAGTCATTTCTACTGGACTTCATGCTTAGATACATGTATAACAAG
Seq A exon
GTTGCTGTGCTGCTTATGGATACCCAGGGTGCCTTTGATAGCCAGTCAACTATCAAAGACTGTGCAACGGTGTTTGCTCTGAGCACTATGACTAGCTCTGTCCAG
Seq C2 exon
GTATATAATCTGTCTCAGAATATTCAAGAAGATGATCTTCAACATTTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119787_MULTIEX1-2/3=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.105 A=0.010 C2=0.000
Domain overlap (PFAM):

C1:
PF0226314=GBP=WD(100=63.4),PF0226314=GBP=PU(2.8=4.9)
A:
PF0226314=GBP=PU(17.1=96.7)
C2:
PF0226314=GBP=PD(0.1=0.0),PF0226314=GBP=FE(11.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:


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


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development