Special

HsaINT0061430 @ hg38

Intron Retention

Gene
Description
mitoguardin 1 [Source:HGNC Symbol;Acc:HGNC:24741]
Coordinates
chr1:77858938-77859386:+
Coord C1 exon
chr1:77858938-77859056
Coord A exon
chr1:77859057-77859313
Coord C2 exon
chr1:77859314-77859386
Length
257 bp
Sequences
Splice sites
5' ss Seq
GAGGTACCA
5' ss Score
6.43
3' ss Seq
CTCCCCTGTTTATTACATAGAAC
3' ss Score
7.8
Exon sequences
Seq C1 exon
CTTGCAGAACACAGAGAAGTACGGCATACCTACAGCCTGGAGTCCCTTTGTCACTGCCCATTTTACGAGGAAGCCATGCATTTAGTTGAAGAAGGAAAAATTTACTCCAGAGTACTGAG
Seq A exon
GTACCATTTCAGTTTTGTTTATGTTTATGAAGGATATTAAGGTGTTTGTGTGGTACTTACTAAAAATGTTTATGAAAATAGGAGAAAATATGTTTTTAGGTCCAAGTAAAGAAAAAATTATTTTTACATGTTCTGTCAGTATTGAAAAAACATGTTTTATATTAAGGTCCTGAGGTTAAGCCTTGTTTGAATCCAAATTTATAGTAGGCTTGATCTTGAATGTAGTTTAACAATTGTCTCCCCTGTTTATTACATAG
Seq C2 exon
AACTGAAATGTTGGAGTGCCTAGGAGACAGTGATTTTCTTGCCAAACTTCACTGTATTCGACAGGCTTTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000180488:ENST00000370791:9
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:
PF102654=DUF2217=FE(7.1=100)
A:
NA
C2:
PF102654=DUF2217=FE(4.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAGAACACAGAGAAGTACGG
R:
TGTCGAATACAGTGAAGTTTGGCA
Band lengths:
180-437
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