HsaINT0061438 @ hg38
Intron Retention
Gene
ENSG00000148343 | MIGA2
Description
mitoguardin 2 [Source:HGNC Symbol;Acc:HGNC:23621]
Coordinates
chr9:129040452-129042514:+
Coord C1 exon
chr9:129040452-129040690
Coord A exon
chr9:129040691-129042303
Coord C2 exon
chr9:129042304-129042514
Length
1613 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
3' ss Seq
GCGTCTCCTCTTCCCTGCAGTCT
3' ss Score
9.61
Exon sequences
Seq C1 exon
CTCTGTGGAGGGGCCCTCTGGTATGTGTGTCCCTGTCCTTCTGGGGCGTGGATGGTGCCTGGGACCCAGCTGGCAACCAGTTGAAGACGTTCTCCTTGGAAGCTCTTGGCCCTGAGGACTTTGCCTGGGGCATTGGCCCTGCCATGGCGTTCCGGAGGGCCGAGGGCACGTCTATGATCCAGGCCCTGGCCATGACGGTGGCCGAGATCCCCGTGTTCCTGTACACGACGTTTGGGCAG
Seq A exon
GTAAGGATCAGGGTGGGTTGTACCTCTGGTCTATGAAACACTTCCATGCTCAGCCAAGGGCTCCTCCGTGTCCAGGAACGCTGAGCCCTCGTTCTTGCTTTGCCAAACCTCTGGTGTCTCCTCTTTGGACTGGGTTTGTTGTCTGAGGCTTCAGGCCTGTTCTTTAGCCTGAGACTATACGAACTCTTTTTTTTTTAATTAATTAAAAAAATTGTATTGGCCGGGTGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGGGACGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGCGGGTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAAGCTGAAGCAGGTGGATCACCTGAAGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACGCTATCTCTACCAAAAGTACAAAAATTAGCCAAGCATGGTGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAATGAGCTGAGATCATGCCACTACACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCAAAAAAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGGATCACTTGAACCCAGGAAGCGGAGGTTGCAGTGAGTCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACTCCGTCTCAAAAAAAAAAAAGTTTTTCGTAATAGAAATAGGGCCTTGCCATTTTGCCCAGGCTGGTCTTGAACTCTTGGGCTCAAGCCATCCACCTACCTTGGCCTCCTAAAGTGCTGGGTTTATAGGCATGAGCCACTGCACCTGGTCCTATATGAACTCTTGACCTCAGTTACTCAGTCTGTAAAAGGGGTCAGTGCCCTCCCTGACAACTCACATGTTTGTGGCTGACTGGGATCTTGACCGAAGATCTGCCTTGTGGGGTACAGTCCCATCTGAGGGGCTCCCAGGCCTGGGGGGCAGAGGGTGAGGTGCAGCAGTAGGAATTGTTCAGATGGGGTGGCAGGTGAGTGAGTGTCATCATCTTTGAGGCATCACTGAGAAATGGGGGTCAGCAGATCTGGGTTTCATGTCTGCCTCTGTCACCTTGAGTATATGTCTTCATGTGGGTGAACCTCAGGTTCCTCGTCTGGAAATGACAGGGACTCAGATGGGTACCCCAGGCTAGGTCCTAGTGCAGTGCCGGGCACAGCTGGTGCTTGTTCACTGCGGCTTGTGTGCTCATGACTGAGGGTGCTGGCCCCTAGACCTCACCTTCTCGGCACTGGCATCTTGCCATCTTTATGTTTTTGTGGCCTGTGTTTCAGGGAGGCTGGTCAACTTCCCCGTCTAGGGTGGCTGCCTCTCAGTCTCTCATCTGGTCGGCAGATGTGCCGGAGAGCCGGTGTGTGTCCCGTCCCTGAGGTGCTCTGGGGCGGTCCTGCTGCCTTGGACCTTCCCCAGGGAGGTGTAACCGGCAGCGTCTCCTCTTCCCTGCAG
Seq C2 exon
TCTGCATTCTCCCAGCTACGGTTGACGCCAGGCCTGCGGAAAGTCCTCTTTGCCACGGCCCTGGGGACTGTGGCCCTGGCCCTGGCTGCCCACCAGCTGAAGAGGCGACGGAGGAGGAAGAAGCAGGTTGGTCCCGAGATGGGAGGGGAGCAGCTGGGCACGGTGCCCCTCCCTATCCTCTTGGCCAGGAAGGTCCCTTCAGTGAAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148343:ENST00000358369:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.209
Domain overlap (PFAM):
C1:
PF102654=DUF2217=PU(0.4=6.2)
A:
NA
C2:
PF102654=DUF2217=PD(94.2=95.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCTCTGGTATGTGTGTCCCT
R:
ACCAACCTGCTTCTTCCTCCT
Band lengths:
358-1971
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