Special

HsaINT0014177 @ hg38

Intron Retention

Gene
Description
atlastin GTPase 2 [Source:HGNC Symbol;Acc:HGNC:24047]
Coordinates
chr2:38318535-38319019:-
Coord C1 exon
chr2:38318885-38319019
Coord A exon
chr2:38318640-38318884
Coord C2 exon
chr2:38318535-38318639
Length
245 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAAA
5' ss Score
1.18
3' ss Seq
TTAAACTCTCAAATTCCTAGGTT
3' ss Score
7.3
Exon sequences
Seq C1 exon
GATTCTCAAAGTTGGATTGGTGGAAACAATGAACCATTGACAGGCTTTACATGGCGAGGTGGCTGTGAAAGAGAAACAACAGGCATACAAGTTTGGAATGAAGTATTTGTGATTGACAGACCTAATGGAACTAAA
Seq A exon
GTAAAATTCTGTTTATACTTTTCTACCCTGTATTCTTTCTTGGGCTATTTTCCAGTATTAAAAATCAAAACAACACAGAACTATTAATGTTTGATAACTTTAACATACGGATTATTATGTCAAATGTATGAGATATAAGTACTTTTCTTGATTTAATTACTGCTTTTCAAATTTATCATTTGATTTTTTTTATAGTCATTTTTGGCAACTGTTTTACTAAATATTTTAAACTCTCAAATTCCTAG
Seq C2 exon
GTTGCTGTGCTGCTTATGGATACCCAGGGTGCCTTTGATAGCCAGTCAACTATCAAAGACTGTGCAACGGTGTTTGCTCTGAGCACTATGACTAGCTCTGTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119787:ENST00000419554:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.043 A=NA C2=0.010
Domain overlap (PFAM):

C1:
PF0226314=GBP=FE(16.2=100)
A:
NA
C2:
PF0226314=GBP=PU(17.1=96.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTCAAAGTTGGATTGGTGGA
R:
TGGACAGAGCTAGTCATAGTGCT
Band lengths:
236-481
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