Special

HsaINT0061435 @ hg38

Intron Retention

Gene
Description
mitoguardin 2 [Source:HGNC Symbol;Acc:HGNC:23621]
Coordinates
chr9:129068198-129069129:+
Coord C1 exon
chr9:129068198-129068332
Coord A exon
chr9:129068333-129069075
Coord C2 exon
chr9:129069076-129069129
Length
743 bp
Sequences
Splice sites
5' ss Seq
ACGGTGGGT
5' ss Score
8.27
3' ss Seq
ACATCCTATTTTTGATGTAGGCC
3' ss Score
8
Exon sequences
Seq C1 exon
GTGGTATGCATGAGCTTCTTCGACATCGTGCTGGACTTCATCCTCATGGACGCCTTCGAGGACCTGGAGAACCCTCCGGCCTCGGTGCTCGCCGTCCTGCGGAACCGCTGGCTGTCAGACAGCTTCAAGGAGACG
Seq A exon
GTGGGTCACTGCCCTGCTCTCAGACCCACACTTGCTCACATCAGCCCGTGTGGTTGCCTGGCTCCGTCCCCTCTGTCCCTAGCACTGGCACCAGGGCTGGGCCCCCACCCCCTAGATCCGCGGCTGCCAGGCCTGGGAGACCAGAGTCTGCCCTGGAGAAGCCTCCAGGGTGCCCCGTTGCTGCCTGGTGCCCCAGTTTAGAACCAACATGGTGTGCGCTTTCTTCCTATTGTGTGGTTTTACTTTTGTGCTGGTATGAATTCGATTCCATTTTAATGCATCCTGTTAAATCAAGTTAAAAGAGGGGAAAGCAAAACCAAAAGGAAAAAAAGGCACAGAGTGAGAGACAACCCAGCACAGGACCCCCAGGAAGGCAAGCAGTAACGCTCCAGCAGCCGGGCTGTGCTGCCTGGGCCCAGGCTTCTGCGAGGTGGTTTACAGGCGGGAACCATTGCTCCCACAACCACCAAAGGAGGTGGGAGTGCTGTGTTGTGCCCCTTTACAGAAGAGGAGACCGAGGCTCAGAGAAGATCCAGCAGTAAGATTAGAGTCAAGATTCAAGTTTAGGTATGTCTGAGTCCAAAATCAGAGGAGGAAGCAGCAGAGCTTAGGCACCTGGCCCCATCTTCCTGCTTGGAGTGGGGTGAGCTGGGTTTAAGGGCTTGGTGCTGGGCTGGCAGAGGGCGAGGGGCTGTGGGCTAGGCCCATTTTGACACCCGGGGGACATCCTATTTTTGATGTAG
Seq C2 exon
GCCTTGGCCACTGCTTGCTGGTCGGTCCTGAAAGCCAAGAGGAGGCTGCTGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148343:ENST00000358369:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.188 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF102654=DUF2217=FE(10.0=100)
A:
NA
C2:
PF102654=DUF2217=FE(3.2=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)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATGAGCTTCTTCGACATCG
R:
CATCAGCAGCCTCCTCTTGG
Band lengths:
182-925
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development