HsaEX1003665 @ hg38
Exon Skipping
Gene
ENSG00000151150 | ANK3
Description
ankyrin 3 [Source:HGNC Symbol;Acc:HGNC:494]
Coordinates
chr10:60067935-60080618:-
Coord C1 exon
chr10:60080537-60080618
Coord A exon
chr10:60073872-60076454
Coord C2 exon
chr10:60067935-60068009
Length
2583 bp
Sequences
Splice sites
3' ss Seq
ATTTCATTTTAAAATTTAAGAAA
3' ss Score
4.01
5' ss Seq
AAGGTAACC
5' ss Score
9.24
Exon sequences
Seq C1 exon
ATTGAGAAAACAGATAGACGACAGAGCTTCGCATCCTTAGCTTTACGTAAGCGCTACAGCTACTTGACTGAGCCTGGAATGA
Seq A exon
AAACAGTTGAACGGAGTACAGGAGCAACAAGATCCCTCCCCACCACTTACTCATACAAGCCATTCTTTTCTACAAGACCATACCAGTCCTGGACAACAGCTCCGATTACAGTGCCTGGGCCAGCCAAGTCAGGCTTCACTTCCTTATCAAGTTCTTCCTCTAATACGCCATCAGCTTCTCCGTTAAAATCAATATGGTCTGTTTCGACACCTTCTCCAATCAAATCCACATTAGGCGCGTCAACTACATCTTCAGTTAAATCCATTAGTGACGTGGCATCTCCAATTAGATCCTTTCGGACAATGTCTTCGCCGATAAAAACTGTGGTGTCACAATCTCCATACAATATCCAAGTTTCCTCTGGTACCCTGGCTAGAGCTCCAGCAGTCACGGAAGCTACGCCCTTAAAAGGGCTGGCATCCAATTCTACGTTTTCCTCTCGAACCTCTCCAGTGACTACAGCAGGGTCTCTTTTGGAGAGGTCATCAATTACTATGACACCCCCTGCCTCCCCCAAATCAAACATTAATATGTATTCCTCAAGTTTGCCATTTAAGTCAATTATTACATCAGCAGCACCGCTAATATCTTCACCTTTAAAGTCAGTGGTGTCTCCAGTTAAATCAGCAGTTGATGTCATTTCATCAGCCAAAATTACAATGGCATCTTCTCTCTCATCACCTGTGAAGCAGATGCCTGGACATGCAGAGGTAGCATTAGTCAATGGATCTATTTCCCCTCTAAAATATCCATCATCCTCAACTTTAATTAATGGATGCAAAGCCACTGCCACGTTACAGGAAAAAATTTCTTCTGCTACAAACTCTGTGAGCTCTGTGGTCAGTGCAGCCACTGACACAGTTGAGAAAGTGTTTTCTACCACGACTGCAATGCCATTTTCCCCACTCAGGTCATATGTTTCTGCAGCACCATCAGCTTTTCAGTCTCTAAGAACTCCTTCCGCAAGTGCACTCTATACATCCCTTGGGTCGTCAATATCTGCAACTACCTCATCTGTAACTTCATCAATTATAACAGTGCCAGTATACTCTGTAGTCAATGTTTTGCCAGAACCAGCATTAAAGAAACTTCCAGACTCTAATTCATTTACAAAATCAGCAGCAGCCTTGCTGTCACCCATTAAAACATTGACTACGGAGACACATCCTCAGCCTCACTTCAGTCGAACTTCATCTCCAGTTAAGTCATCTTTGTTCCTTGCACCCTCTGCCCTTAAGTTGTCTACACCATCTTCTTTATCTTCCAGTCAGGAGATACTAAAAGATGTAGCTGAAATGAAAGAGGACCTAATGCGGATGACCGCAATACTACAGACAGATGTGCCTGAGGAGAAGCCATTCCAACCTGAACTCCCAAAGGAAGGGAGAATAGATGATGAAGAACCTTTCAAAATTGTAGAGAAAGTAAAGGAAGACTTAGTGAAAGTTAGTGAAATCCTTAAAAAGGATGTATGTGTAGATAATAAAGGATCACCCAAATCACCAAAGAGTGACAAAGGACACTCTCCTGAAGATGACTGGATAGAATTTAGTTCGGAAGAAATCCGGGAAGCCAGACAACAAGCTGCTGCGAGCCAGTCTCCATCTCTGCCAGAGAGAGTGCAAGTAAAAGCAAAAGCCGCCTCCGAAAAGGATTATAACTTGACCAAAGTTATTGATTACCTAACAAATGATATTGGGAGTAGTTCACTGACAAACTTAAAATACAAGTTTGAGGATGCAAAGAAGGATGGTGAGGAGAGACAGAAAAGAGTTTTAAAACCAGCAATTGCTTTGCAGGAACACAAACTCAAAATGCCTCCAGCCTCCATGAGGACTTCCACCTCTGAGAAAGAATTGTGTAAAATGGCTGATTCCTTTTTTGGAACAGATACTATTTTAGAGTCTCCTGATGACTTTTCTCAACACGACCAAGATAAAAGTCCCTTGTCTGACAGTGGCTTTGAAACAAGAAGTGAAAAGACACCTTCAGCCCCACAAAGCGCTGAAAGCACTGGTCCTAAACCACTTTTTCATGAAGTTCCCATCCCTCCTGTCATTACAGAAACAAGAACTGAAGTGGTTCATGTTATCAGGAGCTATGATCCCTCAGCTGGGGATGTTCCCCAGACCCAACCAGAGGAGCCTGTGTCACCTAAACCTTCACCTACTTTTATGGAATTGGAACCAAAGCCCACCACCTCTAGTATTAAAGAAAAGGTTAAAGCATTTCAAATGAAAGCCAGTAGTGAAGAAGATGACCACAATCGGGTTTTAAGCAAAGGCATGCGTGTTAAAGAAGAGACTCACATAACCACAACCACCAGAATGGTTTATCATTCTCCACCAGGCGGTGAAGGTGCATCTGAAAGAATTGAAGAAACCATGTCAGTCCATGACATCATGAAGGCCTTTCAGTCCGGGCGGGATCCTTCCAAAGAACTGGCAGGTCTGTTTGAACATAAGTCGGCAGTGTCTCCAGATGTTCACAAGTCTGCTGCTGAAACCTCAGCCCAGCATGCAGAGAAGGACAACCAAATGAAACCCAAACTGGAGCGTATAATAGAAGTCCACATCGAAAAAG
Seq C2 exon
GTCCACAGAGTCCATGTGAACGGACAGATATCAGGATGGCAATAGTAGCCGATCACCTGGGACTTAGTTGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151150_MULTIEX2-16/27=15-18
Average complexity
S*
Mappability confidence:
94%=94=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.196 A=0.489 C2=0.180
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0053117=Death=PU(19.0=61.5)
Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 1 annotated functions for this event
PMID: 25552556
Proximal axonal polarity as well as assembly of the AIS and normal morphogenesis of nodes of Ranvier all require a heretofore uncharacterized alternatively spliced giant exon of ankyrin-G (AnkG). This exon has sequence similarity to I-connectin/Titin and was acquired after the first round of whole-genome duplication by the ancestral ANK2/ANK3 gene in early vertebrates before development of myelin. Non-specific knockdown of Ank3 completely abolishes AIS clustering of AnkG, B4 spectrin, VGSC, and NF186. Rescue with 480-kDA isoform (with giant exon; MmuEX0004933) completely restores this phenotype, whereas rescue with the 270-kDa isoform (with a massive ALTD in the giant exon) partially restores the phenotype. Rescue with 190-kDa isoforms fails to restores any part of the phenotype. Specific knockdown of the 480-kDa isoform completely abolishes AnkG staining at the AIS as well as clustering of its associated binding partners, _4 spectrin, VGSC, and NF186.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains