HsaEX6071239 @ hg38
Exon Skipping
Gene
ENSG00000198513 | ATL1
Description
atlastin GTPase 1 [Source:HGNC Symbol;Acc:HGNC:11231]
Coordinates
chr14:50560025-50591075:+
Coord C1 exon
chr14:50560025-50560299
Coord A exon
chr14:50587831-50588078
Coord C2 exon
chr14:50590941-50591075
Length
248 bp
Sequences
Splice sites
3' ss Seq
GTCACTGCTCTGTTCAACAGGTG
3' ss Score
9.85
5' ss Seq
CAGGTATGC
5' ss Score
9.37
Exon sequences
Seq C1 exon
AGGGAGGGTGTGACGCTGGTATCTGTGTGAACTCGGGCTTGTGATGCTGAGCTTGGTTCATCTGCTTTCTCCTCCCTTTTCCTCCCCACTCCTTCCCACCAGCGCCACAGCAACATCCTCAGAGTCTGAGCGAACTGCGCCCAGCGCGGGCACGGAGCCTCCCACCGCCAGCAACCTGCGGCCCCGGAGAAGGCAGCGAGCGCAGTGACAGCGCCTCACCGCCACCAGCTCCTGGACCACCATGGCCAAGAACCGCAGGGACAGAAACAGTTGGG
Seq A exon
GTGGATTTTCGGAAAAGACATATGAATGGAGCTCAGAAGAGGAGGAGCCAGTGAAAAAGGCAGGACCAGTCCAAGTCCTCATTGTCAAAGATGACCATTCCTTTGAGTTAGATGAAACTGCATTAAATCGGATCCTTCTCTCGGAGGCTGTCAGAGACAAGGAGGTTGTTGCTGTATCTGTTGCTGGAGCATTTAGAAAAGGAAAATCATTCCTGATGGACTTCATGTTGAGATACATGTACAACCAG
Seq C2 exon
GAATCAGTTGATTGGGTTGGAGACTACAATGAACCATTGACTGGTTTTTCATGGAGAGGTGGATCTGAGCGAGAGACCACAGGAATTCAGATATGGAGTGAAATCTTCCTTATCAATAAACCTGATGGTAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198513_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.139 A=0.032 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0226314=GBP=PU(18.8=61.4)
C2:
PF0226314=GBP=FE(16.2=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGAGCTTGGTTCATCTGCT
R:
GTCTCTCGCTCAGATCCACCT
Band lengths:
307-555
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains