GgaEX1065957 @ galGal4
Exon Skipping
Gene
ENSGALG00000003135 | chAnk3
Description
ankyrin 3, node of Ranvier (ankyrin G) [Source:RefSeq peptide;Acc:NP_001264026]
Coordinates
chr6:8482682-8495523:+
Coord C1 exon
chr6:8482682-8482763
Coord A exon
chr6:8487152-8489728
Coord C2 exon
chr6:8495449-8495523
Length
2577 bp
Sequences
Splice sites
3' ss Seq
TTTTAATTTAACAATTTAAGAAA
3' ss Score
3.46
5' ss Seq
AAGGTAATC
5' ss Score
7.46
Exon sequences
Seq C1 exon
ACGGAGAAAGCCGACCGGCGTCAGAACTTTGTCTCCCTTGCTTTACGTAAGCGCTACAGCTATCTGACTGAGCCTGGAATGA
Seq A exon
AAACAGTTGAACGGAGTGCAGGAGCAACAAGATCCCTACCTGCTACTTACTCATACAAGCCATTCTTTTCAACACGGCCATATCAGTCATGGACAACAGCTCCAATTACAGTGCCTGGGCAAACCAAATCAGGCTTCACTTCCTTATCAAGCTCTTCCTCTAACACTCCTACAGCTTCCCCATTAAAATCAATATGGTCTGTTTCTTCTACTTCTCCAATCAAATCCACATTAGGAGCTTCTACCACATCATCAGTTAAATCTGTTAGTGATGTAGCATCTCCGATTAGATCATTTCGGACAATCTCCTCACCAATAAAAACTGTGGTTTCGCAGCCTCCATACAATATGCAGGTTACTTCAGGTTCTTTCGTCAGAGCTCCCGCAGTAACAGAAGCTGCTAGCCTGAAAGGGCTGGCATCCACTACCACATTCCCCTCTCGGACATCTCCTGTGACTACAGCAGGGTCTCTCTTGGAGAGATCATCCATAACCATGACGCCTCCAGCATCCCCCAAATCCAACATTAACATGTACTCTTCAAGTTTGCCTCTTAAATCGGTCATCACATCAGCATCCTCACTCTTATCGTCCCCTCTAAAGTCAGTGGTGTCACCTGCTAAGTCAGCAGTTGATGCTGTTTCATCCTCTAAGGTCATGATGGCCTCGTCTCTCTCGTCGCCAGCAAAACATGTAGCTGGGCACACAGATGTACCATTACTTAATGGGTCTGTGTCACCGCTGAAATACCCATCTTCTTCCAACTTAATAAATGGATCCAAAGCTGCAGCTGTTTTCCAAGACAAGATTGCTGCAGCTGCACATTCTGCAAGTTGTGCTGCTAGCGCAGTTGCTGACACGGCTGAGAGAGTGTTTTCAACTGCTTCAACAATGTCATTTTCTCCACTCAGGTCATTTGTGTCTTCAGCACCATCAGCTTTCCAGTCAATAAGAACTCCTCCTGCAGGTGCTTTGTATACAGCCCTTGGGTCAATATCAGCAACTACCTCATCTGTAACTTCATCAACAGTAACAGTGCCGGTATATTCTGTAGTCAATGTTTTGTCTGAACCAGCATTAAAGAAGCTCCCAGAGTCATCTCCACTTACAAAATCAGCTGCTGCGTTACTGTCACCTATTAAAACATTGACTACAGAGGCACGCACGCAACCTCCCTTTAATCGAACTTCATCTCCAATAAAATCATCCTTGTTCTTAGCACCCTCTGCTCTCAAATTGTCCACGCCATCTTCTTTATCCTCCAGTCAGGAGATACTGAAAGATGTTGCTGAAATGAAAGAGGATCTAATAAGAATGACTGCAATATTGCAGACAGATGTCGCAGAGGACAAACCGTTCCATCCTGAGATACCAAAAGAGGGTAGAATTGATGATGAAGAGCCTTTTAAAATTGTTGAGAAAGTAAAAGAGGACTTAGTAAAAGTTAGTGAGATACTGAAAAAAGATGTATGTTTAGAAAGTAAAGGGTCGGCTAAAGTATCTAAAAGCGATCAAGGACATCTCTCTGAGGATGACTGGGTAGAGTTCAGTACAGAGGAGATTGATGAAGCAAGACAGCAAGCTTTGACAAGCCCTCCTATGTCCGTTCCAGAGAAGGCCCAAATTAAAACTAAAACCGTGTCGGAAAAGGATTATAACTTATCAAAAGTTATTGATTACTTAGCAAATGATATTGGTAGCAGTTCATTGACAAACATAAAGTACAAGTTTGAAGAGGGGAAAAAAGAAGGTGAAGAGAGACAAAAACGCATTTTAAAGCCAGCTATTGCTTTGCAGGAACACAAACTCAAAATGCCTCCTGCCTCCATGAGGCCTTCAACATCAGAAAAGGAGTTATGTAAAATTGCAGATTCCTTTTTTGGAACAGATACAATTTTAGAGTCTCCGGATGACTTTTCTCAACACGATCAAGACAAAAGTCCCTTATCTGACAGTGGCTTCGAAACAAGGAGTGAAAAAACACCTTCTGCCCCTCAAAGCGCTGAAAGCACAGGGCCAAAACCACTTTTCCATGATGTACCCATCCCTCCCGTCATTACAGAAACGAGAACTGAGGTAGTTCATGTTATCCGTAGCTACGAACCATCATCTGAAGAAATTCCAGAGCAGAAAGCAGAGGAACTACCGGCCGCAAAGCCTGCCCCTGCTTTTATGGAGCTGGAGCAAAAGCCTGCTGGGTCTATTAAAGAGAAAGTTAAAGCATTTCAAATGAAAGCTAGCAGCAGTGAGGAAGATGACCACAAGTGTGTCCTCAGCAAAGGTGTCCGAGTAAAAGAAGAAACTCACATCACTACGACGACTAGGATGGTTTATCATAAACCTCCGTGCGCTGAAAGCACATCGGAAAGAATTGAGGAAACAATGTCTGTTCATGACATAATGAAAGCCTTTCAGTCTGGACGTGACCCTTCCAAAGAACTGGCAGGTCTGTTTGAACATAAATCATCAGTAACAGCCGATGTTAGCAAGTCTGCTGAAACTTCACCACAACATGCAGAGAAGGACAGCAAAATGAAACCCAAACTGGAGCGAATAATAGAGGTCCATATTGAAAAAG
Seq C2 exon
GTCCACAAAGTCCATGTGAACGGACAGATATAAGGATGGCAATTGTAGCTGATCACCTTGGACTTAGCTGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSGALG00000003135_MULTIEX3-1/2=C1-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.357 A=0.447 C2=0.154
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0053117=Death=PU(19.0=61.5)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
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]