Special

HsaEX0006685 @ hg38

Exon Skipping

Gene
Description
atlastin GTPase 2 [Source:HGNC Symbol;Acc:HGNC:24047]
Coordinates
chr2:38318885-38377262:-
Coord C1 exon
chr2:38377143-38377262
Coord A exon
chr2:38343268-38343512
Coord C2 exon
chr2:38318885-38319019
Length
245 bp
Sequences
Splice sites
3' ss Seq
TCTTTCTTTTTAAATTCTAGGTG
3' ss Score
11.92
5' ss Seq
AAGGTGAAT
5' ss Score
6.38
Exon sequences
Seq C1 exon
AGATGGCGGAGGGGGACGAGGCAGCGCGAGGGCAGCAACCGCACCAGGGGCTGTGGCGCCGGCGACGGACCAGCGACCCAAGCGCCGCGGTTAACCACGTCTCGTCCACGACCTCCCTAG
Seq A exon
GTGAGAATTATGAAGATGATGACCTAGTAAATTCTGATGAGGTTATGAAGAAACCATGTCCAGTACAGATTGTTCTTGCTCATGAAGATGACCATAACTTTGAACTTGATGAAGAAGCTTTGGAGCAGATATTGCTACAGGAGCACATACGAGATCTTAACATAGTAGTGGTATCTGTGGCAGGAGCTTTTCGTAAAGGGAAGTCATTTCTACTGGACTTCATGCTTAGATACATGTATAACAAG
Seq C2 exon
GATTCTCAAAGTTGGATTGGTGGAAACAATGAACCATTGACAGGCTTTACATGGCGAGGTGGCTGTGAAAGAGAAACAACAGGCATACAAGTTTGGAATGAAGTATTTGTGATTGACAGACCTAATGGAACTAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119787-'0-63,'0-55,18-63
Average complexity
C1
Mappability confidence:
96%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.836 A=0.105 C2=0.043
Domain overlap (PFAM):

C1:
PF0226314=GBP=PU(9.8=32.5)
A:
PF0226314=GBP=WD(100=63.4),PF0226314=GBP=PU(2.8=4.9)
C2:
PF0226314=GBP=FE(16.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Primers PCR
Suggestions for RT-PCR validation
F:
GACGGACCAGCGACCCAAG
R:
AGTTCCATTAGGTCTGTCAATCACA
Band lengths:
189-434
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