Special

HsaEX0024616 @ hg38

Exon Skipping

Gene
Description
mitoguardin 1 [Source:HGNC Symbol;Acc:HGNC:24741]
Coordinates
chr1:77866338-77878421:+
Coord C1 exon
chr1:77866338-77866391
Coord A exon
chr1:77873004-77873120
Coord C2 exon
chr1:77874846-77878421
Length
117 bp
Sequences
Splice sites
3' ss Seq
TCTCCTTTACTTCCCAGCAGATC
3' ss Score
8.77
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
GCTGTGGCTTCAAGTTGTTGGTCGGTGCTGAAACAGAAAAGACAACAGATGAAG
Seq A exon
ATCCCAGATGGATTTTTTGCCCATTTTTATGCCATTTGTGAACACATCAGTCCTGTCCTAGCCTGGGGCTTTTTGGGTCCTAGAAATTCTCTGTATGATTTATGTTGCTTTTTTAAG
Seq C2 exon
AATCAAGTTCTTTTATTTCTCAAAGACATTTTTGACTTTGAGAAGGTGCGCTATTCAAGTACAGAGACTTTAGCTGAAGACCTCATGCAGTTACTCATTCGCCGCACTGAGCTTTTAATGGCCTATCTTGAAGCAGATGCCCTGAGGCATACAAGTAGTTGTCTAAGCAGTCATGGTCATGTTATGTCCACTGGGCTACTGGAAGCCAAAGTACAATAAGTACCATAAGAATCATACAATTTGAGTGTGCTATGAAATATTTTAAGGTAACTATTGATTTTGTAACATATATTACAAAGTTAACAGAATTGATGCATGTGGATTCAGGGAGGAAAAAAAAATCTACTAAAAAATGAGCAACTGTACTGTATTTATACAGAAGTTCTGTCATTGAATTCCTGTGTAGTGTAGTCATAGTGGCTTTTTGCATTCATTAGGTAATAATTGAAGTCATGAAATGTATATTTTACAGAAATATCGCTTGAATTGAAGCCAATATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000180488_MULTIEX2-8/9=7-9
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF102654=DUF2217=FE(3.1=100)
A:
PF102654=DUF2217=FE(7.0=100)
C2:
PF102654=DUF2217=PD(7.7=57.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCAAGTTGTTGGTCGGTGCT
R:
GCCCAGTGGACATAACATGACC
Band lengths:
242-359
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