Special

HsaEX1001196 @ hg38

Exon Skipping

Gene
Description
alpha-2-macroglobulin [Source:HGNC Symbol;Acc:HGNC:7]
Coordinates
chr12:9080094-9093579:-
Coord C1 exon
chr12:9093465-9093579
Coord A exon
chr12:9091201-9091429
Coord C2 exon
chr12:9080094-9080177
Length
229 bp
Sequences
Splice sites
3' ss Seq
TCACTTACACTCCTCTCCAGCTC
3' ss Score
6.87
5' ss Seq
CGGGTAAGG
5' ss Score
10.17
Exon sequences
Seq C1 exon
AGTCAGATGTAATGGGAAGAGGCCATGCACGCCTGGTGCATGTTGAAGAGCCTCACACGGAGACCGTACGAAAGTACTTCCCTGAGACATGGATCTGGGATTTGGTGGTGGTAAA
Seq A exon
CTCAGCAGGTGTGGCTGAGGTAGGAGTAACAGTCCCTGACACCATCACCGAGTGGAAGGCAGGGGCCTTCTGCCTGTCTGAAGATGCTGGACTTGGTATCTCTTCCACTGCCTCTCTCCGAGCCTTCCAGCCCTTCTTTGTGGAGCTCACAATGCCTTACTCTGTGATTCGTGGAGAGGCCTTCACACTCAAGGCCACGGTCCTAAACTACCTTCCCAAATGCATCCGG
Seq C2 exon
GTGGTGAGGTTTCTGAAGAATTATCCCTGAAACTGCCACCAAATGTGGTAGAAGAATCTGCCCGAGCTTCTGTCTCAGTTTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175899_MULTIEX1-7/17=6-11
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.051 A=0.000 C2=0.069
Domain overlap (PFAM):

C1:
PF0020717=A2M=PU(9.9=23.1)
A:
PF0020717=A2M=FE(83.5=100)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAGATGTAATGGGAAGAGGCC
R:
AAAACTGAGACAGAAGCTCGGG
Band lengths:
196-425
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains