Special

HsaEX0004151 @ hg19

Exon Skipping

Gene
Description
ankyrin 3, node of Ranvier (ankyrin G) [Source:HGNC Symbol;Acc:494]
Coordinates
chr10:61802430-61815794:-
Coord C1 exon
chr10:61815416-61815794
Coord A exon
chr10:61804023-61804106
Coord C2 exon
chr10:61802430-61802517
Length
84 bp
Sequences
Splice sites
3' ss Seq
CTTTATGCCACATCCTTTAGGGA
3' ss Score
7.32
5' ss Seq
AAAGTAATC
5' ss Score
0.63
Exon sequences
Seq C1 exon
CCCTGACCAGTGTAGAGATTCCATTACCTCATATCTCAAAGGAGAAGCTGGCAAATTTGAAGCAAATGGAAGCCATACAGAAATCACTCCAGAAGCAAAGACAAAATCTTACTTTCCAGAATCCCAAAATGATGTAGGAAAACAGAGTACCAAGGAAACTCTGAAACCAAAAATACATGGATCTGGTCATGTTGAAGAACCAGCATCACCACTAGCAGCATATCAGAAATCTCTAGAAGAAACCAGCAAGCTTATAATAGAAGAGACTAAACCCTGTGTGCCTGTCAGTATGAAAAAGATGAGTAGGACTTCTCCAGCAGATGGCAAGCCAAGGCTTAGCCTCCATGAAGAAGAGGGGTCCAGTGGGTCTGAGCAAAAG
Seq A exon
GGAGAGGAAGCAAAAAACATTCCTGGTGAATCTGTCACAGAAGAACAATTTACTGATGAAGAAGGCAACCTCATCACCAGAAAA
Seq C2 exon
CAGGGAGAAGGTTTTAAGGTGAAAACGAAGAAAGAAATCCGGCATGTGGAAAAGAAGAGCCACTCGTAACAGCGAACGGTCAGTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151150_MULTIEX1-2/3=C1-C2
Average complexity
ME(1-2[95=100])
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.919 A=1.000 C2=0.958
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCCTGTGTGCCTGTCAGTAT
R:
CGCTGTTACGAGTGGCTCTTC
Band lengths:
183-267
Functional annotations
There are 1 annotated functions for this event
PMID: 21223964
Ankyrins-G coimmunoprecipitated with plectin and filamin C from skeletal muscle tissue extracts. Muscle-specific OTBD domain (coordinated inclusion of MmuEX1003810, MmuEX1003809, MmuEX0004908) is required for ankyrin-G binding to plectin and filamin C. Isoforms are differentially expressed during myogenesis.


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development