Special

HsaEX6031719 @ hg38

Exon Skipping

Gene
Description
mitoguardin 1 [Source:HGNC Symbol;Acc:HGNC:24741]
Coordinates
chr1:77815108-77878421:+
Coord C1 exon
chr1:77815108-77815231
Coord A exon
chr1:77843307-77843407
Coord C2 exon
chr1:77874846-77878421
Length
101 bp
Sequences
Splice sites
3' ss Seq
TTTCACCTTTTACTTTTAAGATA
3' ss Score
8.96
5' ss Seq
GAGGTAGGA
5' ss Score
8.24
Exon sequences
Seq C1 exon
GATATTATTAGTACTGAATTTATCCATAAACTCGAAGCTCTGCTGCAAAGAGCCTATCGTCTCCAAGAGGAGTTTGAAGCTACCCTTGGGGCATCTGATCCTAATTCCCTTGCTGATGATATTG
Seq A exon
ATAAAGATACAGATATCACCATGAAGGGTAATGTGGAAGACTTTGGCCTGCGAGACACCTTGAGCATCGCATCCACGGATTCCTTTGCTTCCGCAGCAGAG
Seq C2 exon
AATCAAGTTCTTTTATTTCTCAAAGACATTTTTGACTTTGAGAAGGTGCGCTATTCAAGTACAGAGACTTTAGCTGAAGACCTCATGCAGTTACTCATTCGCCGCACTGAGCTTTTAATGGCCTATCTTGAAGCAGATGCCCTGAGGCATACAAGTAGTTGTCTAAGCAGTCATGGTCATGTTATGTCCACTGGGCTACTGGAAGCCAAAGTACAATAAGTACCATAAGAATCATACAATTTGAGTGTGCTATGAAATATTTTAAGGTAACTATTGATTTTGTAACATATATTACAAAGTTAACAGAATTGATGCATGTGGATTCAGGGAGGAAAAAAAAATCTACTAAAAAATGAGCAACTGTACTGTATTTATACAGAAGTTCTGTCATTGAATTCCTGTGTAGTGTAGTCATAGTGGCTTTTTGCATTCATTAGGTAATAATTGAAGTCATGAAATGTATATTTTACAGAAATATCGCTTGAATTGAAGCCAATATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000180488_MULTIEX2-1/9=C1-9
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.095 A=0.029 C2=0.000
Domain overlap (PFAM):

C1:
PF102654=DUF2217=FE(7.5=100)
A:
PF102654=DUF2217=FE(6.0=100)
C2:
PF102654=DUF2217=PD(7.7=57.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACTCGAAGCTCTGCTGCAAA
R:
CCTCAGGGCATCTGCTTCAAG
Band lengths:
243-344
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains