HsaEX6071231 @ hg38
Exon Skipping
Gene
ENSG00000198513 | ATL1
Description
atlastin GTPase 1 [Source:HGNC Symbol;Acc:HGNC:11231]
Coordinates
chr14:50621843-50628462:+
Coord C1 exon
chr14:50621843-50621899
Coord A exon
chr14:50623177-50623248
Coord C2 exon
chr14:50628031-50628462
Length
72 bp
Sequences
Splice sites
3' ss Seq
ATTTTGTACTTTGTCCAAAGGCC
3' ss Score
7.45
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
GCTTATATAAAGATCTATCAAGGTGAAGAATTACCACATCCCAAATCCATGTTACAG
Seq A exon
GCCACAGCAGAAGCTAACAATTTAGCAGCCGTGGCAACTGCCAAGGACACATACAACAAAAAAATGGAAGAG
Seq C2 exon
ATTTGTGGTGGTGACAAACCATTTCTGGCCCCAAATGACTTGCAGACCAAACACCTGCAACTTAAGGAAGAATCTGTGAAGCTATTCCGAGGGGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAATAGATGAACTTTACATCCAATATATCAAGCACAATGATAGCAAAAATATCTTCCATGCAGCTCGTACCCCAGCCACACTGTTTGTAGTCATCTTTATCACATATGTGATTGCTGGTGTGACTGGATTCATTGGTTTGGACATCATAGCTAGCCTATGCAATATGATAATGGGACTGACCCTTATCACCCTGTGCACTTGGGCATATATCCGGTACTCTGGAGAATACCGAGAGCTGGGAGCTGTAATAGACCAGGTGGCTGCAGCTCTGTGGGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198513-'32-31,'32-29,33-31
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.092 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF028419=GBP_C=FE(14.1=100)
A:
PF028419=GBP_C=FE(18.0=100)
C2:
PF028419=GBP_C=PD(53.9=47.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCACATCCCAAATCCATGTT
R:
ACTCTCCAACTGCTGCAGGTA
Band lengths:
175-247
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains