Special

HsaINT0014166 @ hg38

Intron Retention

Gene
Description
atlastin GTPase 1 [Source:HGNC Symbol;Acc:HGNC:11231]
Coordinates
chr14:50591535-50593896:+
Coord C1 exon
chr14:50591535-50591639
Coord A exon
chr14:50591640-50593845
Coord C2 exon
chr14:50593846-50593896
Length
2206 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGA
5' ss Score
9.46
3' ss Seq
AATTTTATTTCTTTATCAAGGTA
3' ss Score
6.41
Exon sequences
Seq C1 exon
GTTGCAGTGTTATTGATGGATACTCAGGGAACCTTTGATAGTCAGTCAACTTTGAGAGATTCAGCCACAGTATTTGCCCTTAGCACAATGATCAGCTCAATACAG
Seq A exon
GTATGAAATAAGCCCATTTTGATGATGTTTCTTTAACTAAAAATTATGAGTATATGTGTTTCTACATACATGTTATAATTAGATAAACAACAGAAATTGGGAATCATATATATTGTTTGACTCAATTAGCATACGAGTTCTCGTGATTTCTGTGAGAGTGGAATTGTTTTTGTTACTGTAGTTTAATTACTGACAAACTTTCAAATTGACTGCTTTGGTTAGAAAAGGTCATATTATCTTATTGGGATTTTTGTTGTTGTTGTTTAAAGCCTACAATAAACTCAGTAACATAAATCTTATATGCGTATACATTGAGACCATCTATTGTAAGTTATGTTTAATGAAACAGTGTTTATAAATATAAATTTTGTTCTACATAGCCAGTAGAAACATTTCTAAATGTAAAAACATTTACATGTGTTCATAGCTTTTAAAAACACCTTAATGTACATTTAGGAAAGTAAATAGCTTATATATAAAATTTATCTTTCTTTCCTTTCCTTTTTTCTTTCACTTTTTTAAAAGTCTTATTTTTGAGGTTATTGTGGGCTTTCTAAATTGTCCTGAAAATCCTTGTAGAGTTTTATTAGAACCATAGAATCCATAGCATAAAAGATTTTAAGACTATTTTTAGATATTTTCAATCCACTGGCAAAAGCAAAAAGAGAGTGGCCAAGGAACAGGGCAGATCAATAAAAAAAGGTAAGATAGCTTAAAAAGGCAGAAAAGGCAAAGCAGTTAGGATGAGTGAGTCAAGACTAAAATTACAAGCAAGCATAGAGAATGGAGCTAGTGAACCAGCAACAAGGGCGTCATATATGATTAGGACAACCAAGACAGGGTAAACAGAAGGAGGAAGGAAGACTGAATTTATTAAATAAAGGACTTTAAAGTAAAAGTCATAAAAAAAAAAGTCATGGTTATAACCTACTTAATCAACTTTTAAAAATTAACTTTTCTTTCAGTTGACAAATAAAAATTATATATATTGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCACTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAACCTGGGTGACAGGGCGAGACTCCCGTCTCAAAAAAAAAAAAAAAAATATATATATATATATATGTGTGTGTGTGTGTGTGTAAATTATATATATATGTGTGTACATATATCTGTATATATATAATGTACAATATGATATTTTGAATACACACATTGTATAAGCCTTTAAAATACTGACTTAATCTAATTTATTGTAATTCACAGTGTAAGCCATACTTATACAAGCCTATTTAAACCAGATTGACTTTGCCTTATCAGTATTACTCATTATTTATATTTGACCTGAATACATTGAATATTTTCAGAGAAAAATCTGCTAATTCCTTAGTAATGACTTTTTTTAATTATGTGAGAAATGATGATCTGTTATTTAAATAAGTATACAGAGCATTCTTTTTATATCAGTACATAAATATATAAGCCTCCTTAACTTTTCTTTGAAGTTAATGATATTTATTTCCCTCAAAAAATGTCATCTTAATGCTGTTATCACATATATATATAAGGATGTGAGCATGATATTCAGAACCTAACTTCCATGTGATGAAACTCTGTATAGACATAAATAAAATGATTAATTGTGAAGAAGTCAACATGATTTTTCAAAACAAAATTTTCCATATGGCTTGCTGAGATTTAGATTGTTATTATTTTGTCTTGCTTGGAAGAATGAGTTTTTTTGACTAATTGCATAAATTAGGTTCATAAAATAATTTTAATATTCCATCTCCAGAGCAGGTGACTACTGTATTTCTGGAACCATTTTATAATCATTGTTCATTCCTTATTGTCTCTCAAGCTTATTTTACTTCTCTCTCAAGGTCTTACAAATATCATGTAAGCATGTACATAAGAGAGTCCATTTTGTGGTAACTGATATTTTTAAAAGTAGGGAATGATGAAGTAAGTGCTTAGGATGATGCCAGTTATCTTATCATTGTAATTTTATTTCTTTATCAAG
Seq C2 exon
GTATATAACTTATCCCAAAATGTCCAGGAGGATGATCTTCAGCACCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198513:ENST00000358385:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.015 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0226314=GBP=PU(38.7=96.7)
A:
NA
C2:
PF0226314=GBP=FE(21.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
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
  • Pre-implantation embryo development