Special

HsaEX6093828 @ hg38

Exon Skipping

Gene
ENSG00000141971 | MVB12A
Description
multivesicular body subunit 12A [Source:HGNC Symbol;Acc:HGNC:25153]
Coordinates
chr19:17419081-17420634:+
Coord C1 exon
chr19:17419081-17420225
Coord A exon
chr19:17420313-17420411
Coord C2 exon
chr19:17420538-17420634
Length
99 bp
Sequences
Splice sites
3' ss Seq
GACCCGCGTCCTCCCGGTAGATC
3' ss Score
9.41
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
AGCTCCCAACTTTTCCGTTAAGCACCGAGCTTTTTTCTAGACTAGCAGCTGAGGCCGGAAGGAATTCTGGGGAACGTAGTGCAGACTTGCAGAGAACGAGTCTCTTGGTCCTGTGCCGTAGCATTTCCGGCGGAAGTTGCTGGGCGCGGAAAGCCGGCAAGACCTTTTTTTCCGCCATCATCGCTCACGCGCGCAACCCTGGCGACGCGTGGTGGCGAGGCTCCGCCTCCCCACGCCATTGGCCAGCAGCTCCTCGGGCACGCGTATACTGCGCTTCCGGGCAATCTCCGCCCCCCCCCCCCGCATGGCCTTCTGGGAGTTGTAGTTCGGTCGCGAGCGCTGCCGTCGGGAGGCGCTCCGAGGTTCGAGGCTGTGCCCCGCGACCCCGCCTTCGGCGCTCGGCTCGCAGGATGGATCCCGTACCCGGGACAGACTCGGCGCCGCTGGCTGGCCTGGCCTGGTCGTCGGCCTCTGCACCCCCGCCGCGGGGGTTCAGCGCG
Seq A exon
ATCTCCTGCACCGTCGAGGGGGCACCCGCCAGCTTTGGCAAGAGCTTCGCGCAGAAATCTGGCTACTTCCTGTGCCTTAGTTCTCTGGGCAGCCTAGAG
Seq C2 exon
AACCCGCAGGAGAACGTGGTGGCCGATATCCAGATCGTGGTGGACAAGAGCCCCCTGCCGCTGGGCTTCTCCCCCGTCTGCGACCCCATGGATTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141971-'7-25,'7-24,8-25
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.272 A=0.000 C2=0.071
Domain overlap (PFAM):

C1:
PF102404=DUF2464=PU(7.9=66.7)
A:
PF102404=DUF2464=FE(12.7=100)
C2:
PF102404=DUF2464=FE(12.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCGAGGTTCGAGGCTGT
R:
GATATCGGCCACCACGTTCTC
Band lengths:
175-274
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains