HsaINT0014165 @ hg38
Intron Retention
Gene
ENSG00000198513 | ATL1
Description
atlastin GTPase 1 [Source:HGNC Symbol;Acc:HGNC:11231]
Coordinates
chr14:50590941-50591639:+
Coord C1 exon
chr14:50590941-50591075
Coord A exon
chr14:50591076-50591534
Coord C2 exon
chr14:50591535-50591639
Length
459 bp
Sequences
Splice sites
5' ss Seq
AAGGTATGA
5' ss Score
9.11
3' ss Seq
TGTACTCTTCTTGCCTGTAGGTT
3' ss Score
10.31
Exon sequences
Seq C1 exon
GAATCAGTTGATTGGGTTGGAGACTACAATGAACCATTGACTGGTTTTTCATGGAGAGGTGGATCTGAGCGAGAGACCACAGGAATTCAGATATGGAGTGAAATCTTCCTTATCAATAAACCTGATGGTAAAAAG
Seq A exon
GTATGATGCTAACTTCCTAAATAAAATTGAGTTTTCACTTATAACAGTTACTACTTTTTAGGATCCTTGAAGTTGCACTTTTGAAAATTAATTTTGACCATTTGACATGAAGCTTAAAGTGGGGTAGCATCCTATAGCATGATCTTTGTTTCCCTTTCTTGTGATCAGAGTAGGCGAAATTATAACGATGATAGAACAGCAGATCAGCAAGTAACATCTGTATTTTGTTTCACTGCTACATAAAGTTTCTGTTACGTTGGATTACTAGTAAAAATTACTTATAATAGTAATCAGCTGTTAATATTTTTATTTTCTGTGGCATTCATGGCATGTGTAAGAAATTATCTAAAATAGTATTGATTAATAATGGTTTGCTTTAGTTCTTATATTAATATTATGGTAACCCTAATGACCTAGATGTTCTATAAAATATCAATAATGTACTCTTCTTGCCTGTAG
Seq C2 exon
GTTGCAGTGTTATTGATGGATACTCAGGGAACCTTTGATAGTCAGTCAACTTTGAGAGATTCAGCCACAGTATTTGCCCTTAGCACAATGATCAGCTCAATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198513:ENST00000358385:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.015
Domain overlap (PFAM):
C1:
PF0226314=GBP=FE(16.2=100)
A:
NA
C2:
PF0226314=GBP=PU(38.7=96.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCAGTTGATTGGGTTGGAGACT
R:
CTGTATTGAGCTGATCATTGTGCT
Band lengths:
238-697
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