Special

HsaEX7005626 @ hg38

Exon Skipping

Gene
Description
mitoguardin 2 [Source:HGNC Symbol;Acc:HGNC:23621]
Coordinates
chr9:129063545-129068332:+
Coord C1 exon
chr9:129063545-129063631
Coord A exon
chr9:129067773-129067871
Coord C2 exon
chr9:129067995-129068332
Length
99 bp
Sequences
Splice sites
3' ss Seq
GGCCGTGCTTCTCTCCACAGAGC
3' ss Score
11.29
5' ss Seq
GGGGTGAGT
5' ss Score
7.93
Exon sequences
Seq C1 exon
GGGCTTCTGGAAGACAAGAGTAACCAGCTTTTCTTCGGGAAAGTGGGCCGACAGATGGTGACAGGCCTGATGACCAAGGCTGAGAAG
Seq A exon
AGCCCCAAAGGCTTCCTGGAGAGCTACGAGGAGATGCTGAGCTATGCCCTGCGGCCCGAGACCTGGGCCACAACACGGCTGGAGCTGGAGGGCCGAGGG
Seq C2 exon
TCCCCGGTTCCTGCCCTGCCCCAGGCCAAGGCAGAGGGAGGAATGGCCTCAGCTACACCCGTTGCACAGCAGAGCGGGAAAGACGTGTCCCCCCCACGTGTGCTCATGCCCTGGACCCCAGCTTCAGTCTCCCCATCTGGAAAGTGGCCCCGAGGCTCCGGCAGTGCCCCCATGCATGAGCCTCCCGGGGGCACCCTCTGTAGGTGGTATGCATGAGCTTCTTCGACATCGTGCTGGACTTCATCCTCATGGACGCCTTCGAGGACCTGGAGAACCCTCCGGCCTCGGTGCTCGCCGTCCTGCGGAACCGCTGGCTGTCAGACAGCTTCAAGGAGACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148343-'43-78,'43-77,46-78=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.057 A=0.089 C2=0.634
Domain overlap (PFAM):

C1:
PF102654=DUF2217=FE(37.3=100)
A:
PF102654=DUF2217=FE(42.7=100)
C2:
PF102654=DUF2217=PD(2.7=2.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGACAGGCCTGATGACCAAG
R:
TCCAGATGGGGAGACTGAAGC
Band lengths:
171-270
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains