HsaEX0006681 @ hg38
Exon Skipping
Gene
ENSG00000198513 | ATL1
Description
atlastin GTPase 1 [Source:HGNC Symbol;Acc:HGNC:11231]
Coordinates
chr14:50628031-50633049:+
Coord C1 exon
chr14:50628031-50628462
Coord A exon
chr14:50629995-50630009
Coord C2 exon
chr14:50632229-50633049
Length
15 bp
Sequences
Splice sites
3' ss Seq
TTAATCTGCCTTTGCCACAGGGA
3' ss Score
9.08
5' ss Seq
GAGGTAAGT
5' ss Score
11.08
Exon sequences
Seq C1 exon
ATTTGTGGTGGTGACAAACCATTTCTGGCCCCAAATGACTTGCAGACCAAACACCTGCAACTTAAGGAAGAATCTGTGAAGCTATTCCGAGGGGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAATAGATGAACTTTACATCCAATATATCAAGCACAATGATAGCAAAAATATCTTCCATGCAGCTCGTACCCCAGCCACACTGTTTGTAGTCATCTTTATCACATATGTGATTGCTGGTGTGACTGGATTCATTGGTTTGGACATCATAGCTAGCCTATGCAATATGATAATGGGACTGACCCTTATCACCCTGTGCACTTGGGCATATATCCGGTACTCTGGAGAATACCGAGAGCTGGGAGCTGTAATAGACCAGGTGGCTGCAGCTCTGTGGGACCAG
Seq A exon
GGAAGTACAAATGAG
Seq C2 exon
GCTTTGTACAAGCTTTACAGTGCAGCAGCAACCCACAGACATCTGTATCATCAAGCTTTCCCTACACCAAAGTCGGAATCTACTGAACAATCAGAAAAGAAAAAAATGTAATGCAAATTTTAAGAAATACAGGTGCATGACCAATTGTCAATTAAATATTCAGTTTTATGTCTCCATGCAAACATTCAAAGTGCTTCCATCAGAACGGAGTAAAATACTAAACACCTCTGAAGACTGCAAACTGGATTAGTTCTTTTACTTCAGTGTTTAATAAGCAGATGTATGTATGCATGGTTATACTATTTTGTTAACATGTACAATTTCCTGATTTTTCTTCAAAAATGCTGTTATAAAGTATTTGTCTATTTATGATAACAGTACACGTGTTCTGCTTGAATTTACTAAATTCTACTACTGGGTTATAATTAAATCATGTGATATTCCACGTTTGGATATGCTCATTTAATTTCTACAGAAAAAATTTTAAATTATTTCACATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198513-'35-36,'35-34,37-36
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.285
Domain overlap (PFAM):
C1:
PF028419=GBP_C=PD(53.9=47.9)
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCACTTGGGCATATATCCGGT
R:
TGCTGCTGCACTGTAAAGCTT
Band lengths:
116-131
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development