HsaEX0004136 @ hg38
Exon Skipping
Gene
ENSG00000145362 | ANK2
Description
ankyrin 2 [Source:HGNC Symbol;Acc:HGNC:493]
Coordinates
chr4:113350228-113360897:+
Coord C1 exon
chr4:113350228-113350249
Coord A exon
chr4:113353045-113355758
Coord C2 exon
chr4:113360823-113360897
Length
2714 bp
Sequences
Splice sites
3' ss Seq
GTTTTTCATTCACATCAAAGATG
3' ss Score
3.46
5' ss Seq
AAGGCCTTG
5' ss Score
-7.52
Exon sequences
Seq C1 exon
ATCGATATGACATCAGAAAAAA
Seq A exon
ATGATGAGACAGAATCTACAGAAACATCTGTCCTGAAAAGTCACCTGGTTAATGAAGTTCCTGTCCTAGCAAGTCCGGACTTGCTCTCTGAAGTTTCTGAGATGAAACAAGATTTGATCAAAATGACCGCCATCTTGACCACAGATGTGTCTGATAAGGCAGGTTCTATTAAAGTGAAGGAGCTGGTGAAGGCTGCTGAGGAAGAGCCAGGAGAGCCTTTTGAAATCGTTGAAAGAGTTAAAGAGGACTTAGAGAAAGTGAATGAAATCCTGAGAAGTGGAACCTGCACAAGAGATGAAAGCAGTGTGCAGAGCTCTCGGTCTGAGAGAGGATTAGTTGAAGAGGAATGGGTTATTGTCAGTGATGAGGAAATAGAAGAGGCTAGGCAAAAAGCACCTTTAGAAATCACTGAATATCCATGTGTAGAAGTTAGAATAGATAAAGAGATCAAAGGAAAAGTAGAGAAAGACTCAACTGGGCTAGTGAACTACCTTACTGATGATCTGAATACCTGTGTGCCTCTTCCCAAAGAGCAGCTGCAGACAGTTCAAGATAAGGCAGGGAAGAAATGTGAGGCTCTGGCTGTTGGCAGGAGCTCTGAAAAGGAAGGGAAAGACATACCCCCAGATGAGACACAGAGTACACAGAAACAGCACAAACCAAGCTTGGGAATAAAGAAGCCAGTAAGAAGGAAATTAAAAGAAAAGCAGAAACAAAAAGAGGAAGGTTTACAAGCTAGTGCAGAGAAAGCTGAACTTAAAAAAGGTAGTTCAGAAGAGTCATTAGGTGAAGACCCAGGTTTAGCCCCTGAACCCCTTCCCACTGTCAAGGCCACATCTCCTTTGATAGAAGAAACTCCCATTGGTTCCATAAAGGACAAAGTAAAGGCCCTTCAGAAGCGAGTGGAAGATGAACAGAAAGGTCGAAGCAAGTTGCCCATCAGAGTCAAAGGCAAGGAGGACGTGCCAAAAAAGACCACCCACAGGCCACATCCAGCTGCGTCACCCTCTCTGAAGTCAGAGAGACATGCGCCAGGGTCTCCCTCCCCTAAAACAGAAAGACACTCTACTCTTTCCTCTTCCGCAAAAACTGAAAGGCACCCTCCAGTATCACCATCAAGTAAAACTGAGAAACACTCACCTGTGTCACCCTCTGCAAAAACGGAAAGACATTCACCTGCGTCATCATCGAGTAAAACTGAGAAACACTCACCTGTATCACCCTCGACAAAAACTGAAAGGCACTCTCCTGTGTCATCTACAAAAACAGAAAGACACCCACCTGTTTCGCCTTCAGGCAAAACAGACAAACGTCCACCTGTATCGCCCTCCGGGAGGACAGAAAAACACCCGCCAGTATCGCCTGGGAGAACAGAAAAACGCTTGCCTGTTTCACCCTCCGGAAGAACGGACAAGCACCAACCTGTATCAACAGCTGGGAAAACTGAGAAGCACCTGCCTGTGTCACCTTCTGGCAAAACAGAAAAGCAACCACCTGTATCCCCCACTTCAAAAACAGAGAGGATTGAGGAAACCATGTCTGTTCGGGAGCTGATGAAGGCTTTCCAGTCAGGTCAGGACCCTTCTAAACATAAAACTGGACTCTTTGAGCACAAATCAGCAAAACAAAAGCAGCCACAAGAGAAAGGTAAAGTTCGGGTAGAAAAAGAAAAGGGGCCGATACTAACCCAGAGAGAAGCTCAGAAAACAGAGAATCAGACAATCAAACGAGGCCAGAGACTCCCGGTAACGGGCACAGCAGAATCCAAAAGAGGAGTTCGTGTTTCCTCCATAGGAGTTAAGAAAGAAGATGCAGCTGGAGGAAAGGAGAAAGTTCTCAGCCACAAAATACCTGAACCTGTTCAGTCAGTGCCTGAAGAAGAAAGCCACAGAGAGAGCGAAGTGCCCAAAGAAAAGATGGCTGATGAGCAGGGAGACATGGATCTACAGATCAGCCCAGATAGGAAAACCTCCACTGACTTCTCTGAGGTCATTAAGCAAGAGTTGGAAGACAATGACAAATACCAACAATTCCGCCTGAGTGAGGAGACAGAAAAGGCACAGCTTCACTTAGACCAAGTACTCACTAGTCCTTTCAACACAACATTTCCACTCGACTACATGAAAGATGAGTTCCTTCCAGCTCTGTCTTTACAAAGCGGTGCTTTAGATGGCAGTTCTGAAAGCCTAAAGAATGAGGGGGTAGCCGGCTCTCCGTGTGGCAGCCTGATGGAGGGGACCCCTCAGATTAGTTCAGAAGAAAGCTATAAGCATGAAGGCCTAGCAGAGACCCCTGAGACGAGCCCAGAAAGCCTTTCTTTCTCACCAAAGAAAAGTGAGGAGCAAACTGGGGAAACAAAGGAAAGCACCAAGACAGAAACCACCACAGAAATTCGTTCAGAAAAAGAGCATCCCACGACCAAAGACATTACTGGTGGCTCTGAAGAGCGAGGTGCCACAGTCACTGAGGACTCAGAGACCTCTACTGAGAGTTTTCAGAAAGAGGCCACTCTAGGCTCTCCCAAAGACACAAGCCCTAAAAGACAAGATGATTGCACAGGCAGCTGTAGTGTAGCATTAGCTAAAGAGACACCTACAGGACTGACTGAGGAGGCAGCCTGTGATGAAGGTCAACGTACCTTTGGTAGTTCAGCCCACAAGACACAAACTGATAGTGAGGTTCAAGAATCCACAGCCACCTCAGACGAGACAAAG
Seq C2 exon
ATCCACAGGATGAGCAGGAACGGATCGAGGAAAGGCTGGCTTATATTGCTGATCACCTTGGCTTCAGCTGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000145362_MULTIEX3-3/5=2-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.962 A=0.841 C2=0.392
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0053117=Death=PU(19.0=61.5)
Main Inclusion Isoform:
ENST00000506722fB360
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
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: 31285321
Giant ankB (contains HsaEX0004136) localizes to periodic axonal plasma membrane domains through L1 cell-adhesion molecule protein, where it couples microtubules to the plasma membrane and prevents microtubule entry into nascent axon branches. Giant ankB mutation or deficiency results in a dominantly inherited impairment in selected communicative and social behaviors combined with superior executive function.
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