HsaINT1004764 @ hg38
Intron Retention
Gene
ENSG00000198513 | ATL1
Description
atlastin GTPase 1 [Source:HGNC Symbol;Acc:HGNC:11231]
Coordinates
chr14:50628031-50630009:+
Coord C1 exon
chr14:50628031-50628462
Coord A exon
chr14:50628463-50629994
Coord C2 exon
chr14:50629995-50630009
Length
1532 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
3' ss Seq
TTAATCTGCCTTTGCCACAGGGA
3' ss Score
9.08
Exon sequences
Seq C1 exon
ATTTGTGGTGGTGACAAACCATTTCTGGCCCCAAATGACTTGCAGACCAAACACCTGCAACTTAAGGAAGAATCTGTGAAGCTATTCCGAGGGGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAATAGATGAACTTTACATCCAATATATCAAGCACAATGATAGCAAAAATATCTTCCATGCAGCTCGTACCCCAGCCACACTGTTTGTAGTCATCTTTATCACATATGTGATTGCTGGTGTGACTGGATTCATTGGTTTGGACATCATAGCTAGCCTATGCAATATGATAATGGGACTGACCCTTATCACCCTGTGCACTTGGGCATATATCCGGTACTCTGGAGAATACCGAGAGCTGGGAGCTGTAATAGACCAGGTGGCTGCAGCTCTGTGGGACCAG
Seq A exon
GTAAGAACACCTTTAATTCACAACTAAATTCAGCACACATTTGAATGTCATCCATGTGCCAGCCACTGCATTAGATGTTGGAAATACAGATCAACAGGAATTGGGCCCCAGTCATCAAGAATGTTATGACCTGCCCAGATACAAGCAACTAACTATATAATACTGTGTAAAATGTGAAGTCCTACACAACTATTTTCCAGTTAACATTTCAGCATTTAAAAAAATATACATCAGTTTAGTAGTATATATACTTTTTTTTCTTTTTTTGGGTAGGGGGGCAGTCTTGCTCTGTCATCTAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTTGTGCCTCAGCCTCTCGAGTAGATGGGACTACAGGTGCATACCACCATCCCCAGCTAAGTTTTTGTATTTTTTGTAGAAACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAATCTGCGCGCCTCAGCCTTCCAAAGCGTTGGGATTATAGGCGTGAGCCACCCAGCCTACTTTTTATTATTCTAAAAATGTTATATCTATTAAAAGTTGTAAGAGACAACAGCTTTTATTTAGCTAATTATGACTTGTGTTAACATTATCTCATATTTACAACCTATGATTTGATTAGCATTAGCTTTGTTAGGAGCTATCTGAACCACTATCATAAGTTGTCATATCATTCTCTTTTTTAGTTAAAAACTTCCAAAAGCAGTATCAGATTACTTCAGATTGTCTCTGTACCTGTAGGCAGCAGGTAATAGCTACAATTCTTCCAGCATTAAGAACATACTTATGGCCAGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTCCGAGGCCAAAGTGGGCGGATCATCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAATAGCCAGTCATAGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCACTGAGCCGAGATGGCACCACAGCACTCCAGCCTGGGCAACAAGAGTGAAGCTCCATCTCCCAAAAAAAAAAAAAAAAACCCTACTTATATATACTTTATAACATAATTGTAACGTGCCTTTGAAGGATCTAGCTGAGATAAACTAGTGGTAGCACAATGGGAAATGAATGAAGTAAAAACTGGATCCTCTGAGCCACTTTCTGAAATAGTCCCTCAACCACAAAAGATTTAAGAGGGGTTGAGGTCAATGTCAAAACCCTCCTAGACTTATGTTATGCTAAAACCTATGAGGAATACAGAATTGAGTTCTTCAAAGATTCTGATAAAATATGTAATCTAAACTGAAAAATCTGCAGGAGTATCTGTTCTGAAATGCTCACAAATTAATATTGTAAGCAAAGTTGATTATAATGCTGTTAATAAAGCAGGATATATACTTTTCTTTTTTCTTTTTAATCTGCCTTTGCCACAG
Seq C2 exon
GGAAGTACAAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198513:ENST00000358385:12
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=0.000
Domain overlap (PFAM):
C1:
PF028419=GBP_C=PD(53.9=47.9)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains