Special

HsaEX6043812 @ hg38

Exon Skipping

Gene
Description
matrix metallopeptidase 2 [Source:HGNC Symbol;Acc:HGNC:7166]
Coordinates
chr16:55485299-55488716:+
Coord C1 exon
chr16:55485299-55485427
Coord A exon
chr16:55485604-55485777
Coord C2 exon
chr16:55488543-55488716
Length
174 bp
Sequences
Splice sites
3' ss Seq
CCTTCCATGTCACTCTTTAGTGG
3' ss Score
6.06
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
AGCATGGCGATGGATACCCCTTTGACGGTAAGGACGGACTCCTGGCTCATGCCTTCGCCCCAGGCACTGGTGTTGGGGGAGACTCCCATTTTGATGACGATGAGCTATGGACCTTGGGAGAAGGCCAAG
Seq A exon
TGGTCCGTGTGAAGTATGGGAACGCCGATGGGGAGTACTGCAAGTTCCCCTTCTTGTTCAATGGCAAGGAGTACAACAGCTGCACTGATACCGGCCGCAGCGATGGCTTCCTCTGGTGCTCCACCACCTACAACTTTGAGAAGGATGGCAAGTACGGCTTCTGTCCCCATGAAG
Seq C2 exon
CCCTGTTCACCATGGGCGGCAACGCTGAAGGACAGCCCTGCAAGTTTCCATTCCGCTTCCAGGGCACATCCTATGACAGCTGCACCACTGAGGGCCGCACGGATGGCTACCGCTGGTGCGGCACCACTGAGGACTACGACCGCGACAAGAAGTATGGCTTCTGCCCTGAGACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000087245-'18-18,'18-15,20-18=AN
Average complexity
A_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=0.003
Domain overlap (PFAM):

C1:
PF0041319=Peptidase_M10=PD(22.1=89.5)
A:
PF0041319=Peptidase_M10=FE(17.6=100),PF0004014=fn2=WD(100=71.2)
C2:
PF0041319=Peptidase_M10=FE(17.6=100),PF0004014=fn2=WD(100=71.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTTTGACGGTAAGGACGGAC
R:
CGGTCGTAGTCCTCAGTGGT
Band lengths:
253-427
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains