HsaEX0004136 @ hg19
Exon Skipping
Gene
ENSG00000145362 | ANK2
Description
ankyrin 2, neuronal [Source:HGNC Symbol;Acc:493]
Coordinates
chr4:114271384-114282053:+
Coord C1 exon
chr4:114271384-114271405
Coord A exon
chr4:114274201-114280455
Coord C2 exon
chr4:114281979-114282053
Length
6255 bp
Sequences
Splice sites
3' ss Seq
GTTTTTCATTCACATCAAAGATG
3' ss Score
3.46
5' ss Seq
AAGGTATTT
5' ss Score
7.64
Exon sequences
Seq C1 exon
ATCGATATGACATCAGAAAAAA
Seq A exon
ATGATGAGACAGAATCTACAGAAACATCTGTCCTGAAAAGTCACCTGGTTAATGAAGTTCCTGTCCTAGCAAGTCCGGACTTGCTCTCTGAAGTTTCTGAGATGAAACAAGATTTGATCAAAATGACCGCCATCTTGACCACAGATGTGTCTGATAAGGCAGGTTCTATTAAAGTGAAGGAGCTGGTGAAGGCTGCTGAGGAAGAGCCAGGAGAGCCTTTTGAAATCGTTGAAAGAGTTAAAGAGGACTTAGAGAAAGTGAATGAAATCCTGAGAAGTGGAACCTGCACAAGAGATGAAAGCAGTGTGCAGAGCTCTCGGTCTGAGAGAGGATTAGTTGAAGAGGAATGGGTTATTGTCAGTGATGAGGAAATAGAAGAGGCTAGGCAAAAAGCACCTTTAGAAATCACTGAATATCCATGTGTAGAAGTTAGAATAGATAAAGAGATCAAAGGAAAAGTAGAGAAAGACTCAACTGGGCTAGTGAACTACCTTACTGATGATCTGAATACCTGTGTGCCTCTTCCCAAAGAGCAGCTGCAGACAGTTCAAGATAAGGCAGGGAAGAAATGTGAGGCTCTGGCTGTTGGCAGGAGCTCTGAAAAGGAAGGGAAAGACATACCCCCAGATGAGACACAGAGTACACAGAAACAGCACAAACCAAGCTTGGGAATAAAGAAGCCAGTAAGAAGGAAATTAAAAGAAAAGCAGAAACAAAAAGAGGAAGGTTTACAAGCTAGTGCAGAGAAAGCTGAACTTAAAAAAGGTAGTTCAGAAGAGTCATTAGGTGAAGACCCAGGTTTAGCCCCTGAACCCCTTCCCACTGTCAAGGCCACATCTCCTTTGATAGAAGAAACTCCCATTGGTTCCATAAAGGACAAAGTAAAGGCCCTTCAGAAGCGAGTGGAAGATGAACAGAAAGGTCGAAGCAAGTTGCCCATCAGAGTCAAAGGCAAGGAGGACGTGCCAAAAAAGACCACCCACAGGCCACATCCAGCTGCGTCACCCTCTCTGAAGTCAGAGAGACATGCGCCAGGGTCTCCCTCCCCTAAAACAGAAAGACACTCTACTCTTTCCTCTTCCGCAAAAACTGAAAGGCACCCTCCAGTATCACCATCAAGTAAAACTGAGAAACACTCACCTGTGTCACCCTCTGCAAAAACGGAAAGACATTCACCTGCGTCATCATCGAGTAAAACTGAGAAACACTCACCTGTATCACCCTCGACAAAAACTGAAAGGCACTCTCCTGTGTCATCTACAAAAACAGAAAGACACCCACCTGTTTCGCCTTCAGGCAAAACAGACAAACGTCCACCTGTATCGCCCTCCGGGAGGACAGAAAAACACCCGCCAGTATCGCCTGGGAGAACAGAAAAACGCTTGCCTGTTTCACCCTCCGGAAGAACGGACAAGCACCAACCTGTATCAACAGCTGGGAAAACTGAGAAGCACCTGCCTGTGTCACCTTCTGGCAAAACAGAAAAGCAACCACCTGTATCCCCCACTTCAAAAACAGAGAGGATTGAGGAAACCATGTCTGTTCGGGAGCTGATGAAGGCTTTCCAGTCAGGTCAGGACCCTTCTAAACATAAAACTGGACTCTTTGAGCACAAATCAGCAAAACAAAAGCAGCCACAAGAGAAAGGTAAAGTTCGGGTAGAAAAAGAAAAGGGGCCGATACTAACCCAGAGAGAAGCTCAGAAAACAGAGAATCAGACAATCAAACGAGGCCAGAGACTCCCGGTAACGGGCACAGCAGAATCCAAAAGAGGAGTTCGTGTTTCCTCCATAGGAGTTAAGAAAGAAGATGCAGCTGGAGGAAAGGAGAAAGTTCTCAGCCACAAAATACCTGAACCTGTTCAGTCAGTGCCTGAAGAAGAAAGCCACAGAGAGAGCGAAGTGCCCAAAGAAAAGATGGCTGATGAGCAGGGAGACATGGATCTACAGATCAGCCCAGATAGGAAAACCTCCACTGACTTCTCTGAGGTCATTAAGCAAGAGTTGGAAGACAATGACAAATACCAACAATTCCGCCTGAGTGAGGAGACAGAAAAGGCACAGCTTCACTTAGACCAAGTACTCACTAGTCCTTTCAACACAACATTTCCACTCGACTACATGAAAGATGAGTTCCTTCCAGCTCTGTCTTTACAAAGCGGTGCTTTAGATGGCAGTTCTGAAAGCCTAAAGAATGAGGGGGTAGCCGGCTCTCCGTGTGGCAGCCTGATGGAGGGGACCCCTCAGATTAGTTCAGAAGAAAGCTATAAGCATGAAGGCCTAGCAGAGACCCCTGAGACGAGCCCAGAAAGCCTTTCTTTCTCACCAAAGAAAAGTGAGGAGCAAACTGGGGAAACAAAGGAAAGCACCAAGACAGAAACCACCACAGAAATTCGTTCAGAAAAAGAGCATCCCACGACCAAAGACATTACTGGTGGCTCTGAAGAGCGAGGTGCCACAGTCACTGAGGACTCAGAGACCTCTACTGAGAGTTTTCAGAAAGAGGCCACTCTAGGCTCTCCCAAAGACACAAGCCCTAAAAGACAAGATGATTGCACAGGCAGCTGTAGTGTAGCATTAGCTAAAGAGACACCTACAGGACTGACTGAGGAGGCAGCCTGTGATGAAGGTCAACGTACCTTTGGTAGTTCAGCCCACAAGACACAAACTGATAGTGAGGTTCAAGAATCCACAGCCACCTCAGACGAGACAAAGGCCTTGCCGCTGCCTGAGGCTTCTGTAAAGACAGATACAGGAACTGAATCAAAACCTCAGGGAGTCATTAGAAGTCCCCAAGGGTTAGAACTTGCACTCCCTAGCCGAGATAGCGAAGTCCTCAGCGCTGTGGCTGATGACTCATTAGCAGTGAGCCACAAAGACTCTCTGGAAGCCAGCCCTGTGCTAGAAGATAACTCTTCACACAAAACCCCTGATTCTCTGGAGCCAAGTCCTCTGAAAGAATCCCCTTGCCGTGACTCTCTGGAAAGCAGCCCTGTTGAACCAAAGATGAAGGCTGGAATTTTTCCAAGTCACTTTCCTCTTCCTGCAGCTGTTGCCAAAACAGAACTCTTGACGGAAGTGGCCTCTGTGCGGTCCCGGCTACTCCGAGACCCTGATGGCAGTGCTGAGGATGACAGTCTTGAGCAGACATCGCTCATGGAGAGCTCAGGGAAGAGCCCCCTTTCTCCTGACACCCCCAGCTCTGAAGAAGTCAGCTATGAGGTTACACCCAAAACCACAGATGTAAGTACACCAAAACCAGCTGTGATTCATGAATGTGCAGAGGAGGATGATTCAGAAAACGGGGAGAAAAAGAGGTTCACACCTGAAGAGGAGATGTTTAAAATGGTAACCAAAATCAAAATGTTTGATGAACTTGAACAAGAAGCAAAGCAGAAAAGGGACTACAAAAAAGAACCCAAACAAGAAGAATCTTCTTCATCTTCTGACCCAGATGCTGACTGTTCAGTAGATGTGGATGAACCAAAACATACAGGCAGTGGGGAGGATGAAAGTGGTGTCCCTGTGTTAGTAACTTCGGAGAGCAGGAAGGTGTCTTCCTCCTCAGAAAGTGAACCTGAGTTGGCACAGCTTAAAAAAGGTGCTGACTCAGGCCTTTTACCAGAACCAGTGATTCGAGTACAACCTCCTTCTCCACTTCCATCAAGCATGGACTCCAATTCCAGTCCAGAAGAAGTACAATTCCAGCCTGTCGTTTCCAAACAATATACTTTCAAGATGAATGAAGATACTCAGGAAGAGCCAGGCAAATCAGAAGAAGAAAAAGATTCTGAATCCCATTTAGCTGAAGACCGTCATGCTGTTTCCACTGAGGCTGAAGACAGGTCTTATGATAAGCTAAACAGAGACACTGATCAGCCAAAAATCTGTGATGGCCATGGATGTGAGGCCATGAGTCCTAGCAGCTCAGCTGCTCCTGTCTCTTCAGGTCTACAGAGTCCGACTGGTGATGATGTTGATGAACAGCCAGTCATCTATAAAGAATCATTAGCTCTCCAAGGCACTCATGAAAAAGACACAGAGGGAGAAGAGCTTGATGTTTCTAGAGCAGAATCTCCACAAGCAGATTGCCCCAGTGAAAGCTTTTCATCTTCATCCTCTTTGCCTCATTGTTTGGTATCTGAAGGAAAAGAATTAGATGAAGACATATCTGCCACATCTTCTATTCAAAAAACAGAGGTCACAAAAACTGATGAAACATTTGAGAACTTACCAAAGGACTGCCCCTCTCAAGACTCATCCATTACTACTCAAACAGATAGATTTTCCATGGATGTTCCCGTGTCTGACCTAGCTGAGAATGATGAAATCTATGATCCACAAATCACTAGCCCTTATGAAAATGTCCCTTCCCAATCTTTTTTCTCTAGTGAAGAAAGCAAAACCCAAACAGATGCAAATCACACCACAAGTTTTCACTCTTCTGAAGTGTATTCTGTTACCATCACATCCCCTGTTGAAGACGTTGTAGTGGCAAGCTCCTCTAGTGGAACTGTTTTAAGCAAAGAATCTAATTTTGAGGGCCAGGACATAAAAATGGAATCCCAACAGGAAAGTACCTTGTGGGAAATGCAATCAGACAGTGTCTCTTCATCTTTCGAGCCTACTATGTCCGCTACAACAACAGTTGTTGGTGAACAAATAAGCAAAGTCATCATCACAAAAACTGATGTGGATTCTGATTCTTGGAGTGAAATTCGGGAAGACGATGAAGCCTTTGAGGCTCGTGTGAAAGAGGAAGAACAAAAGATATTTGGTTTGATGGTAGACAGACAATCACAGGGTACCACCCCTGACACCACTCCTGCTAGGACCCCAACTGAAGAGGGGACCCCAACAAGTGAGCAAAACCCATTTCTGTTTCAGGAAGGAAAATTGTTTGAAATGACCCGAAGTGGTGCCATTGATATGACCAAAAGGTCCTATGCAGATGAAAGTTTTCACTTTTTCCAAATTGGTCAAGAATCCAGGGAAGAGACTCTCTCTGAAGATGTGAAAGAAGGGGCTACTGGGGCTGATCCCCTACCGCTGGAGACATCAGCTGAATCACTAGCACTTTCAGAATCAAAAGAAACAGTGGATGATGAGGCAGACTTACTTCCAGATGACGTGAGTGAGGAAGTAGAGGAAATACCTGCTTCGGATGCTCAACTTAACTCCCAAATGGGGATTTCAGCCTCCACTGAAACACCTACAAAAGAAGCTGTTAGTGTAGGGACCAAGGACCTCCCCACCGTGCAAACGGGTGATATACCTCCTCTCTCTGGTGTAAAGCAGATATCCTGCCCCGACTCTTCTGAACCAGCTGTACAAGTCCAGTTAGATTTTTCCACACTCACCAGGTCTGTTTATTCAGATAGGGGTGATGATTCTCCCGATTCTTCCCCAGAAGAACAGAAATCAGTAATCGAGATTCCTACTGCACCCATGGAGAATGTGCCTTTTACTGAAAGCAAATCCAAAATTCCTGTAAGGACTATGCCCACTTCCACCCCAGCACCTCCATCTGCAGAGTATGAGAGTTCAGTTTCTGAAGATTTTCTATCCAGTGTAGATGAGGAAAATAAGGCGGATGAAGCAAAACCAAAGTCCAAACTCCCTGTCAAAGTACCCCTCCAAAGAGTTGAACAGCAGCTCTCAGATCTAGACACCTCTGTCCAGAAGACAGTGGCTCCTCAGGGACAGGACATGGCAAGCATCGCACCAGATAATAGAAGCAAATCTGAATCTGATGCTAGTTCTTTGGATTCAAAGACCAAATGCCCAGTAAAAACCCGAAGTTACACTGAGACAGAAACAGAGAGCAGAGAGAGGGCCGAGGAACTTGAGTTAGAATCAGAAGAAGGGGCCACAAGACCAAAGATACTTACATCCCGATTGCCAGTTAAGAGCAGAAGCACTACATCTTCCTGCAGGGGGGGCACGAGCCCCACAAAAGAAAGTAAGGAGCATTTCTTTGACCTTTACAGAAATTCCATAGAATTCTTTGAGGAGATTAGTGATGAGGCTTCCAAATTAGTGGATAGGCTGACACAGTCAGAGAGGGAGCAGGAAATAGTTTCAGACGATGAAAGTAGTAGTGCCCTGGAAGTATCAGTAATTGAAAATCTGCCACCTGTTGAGACCGAGCACTCAGTTCCTGAGGACATCTTTGACACAAGGCCCATTTGGGATGAGTCTATTGAGACTCTGATTGAACGCATCCCTGATGAAAATGGCCATGACCATGCTGAAG
Seq C2 exon
ATCCACAGGATGAGCAGGAACGGATCGAGGAAAGGCTGGCTTATATTGCTGATCACCTTGGCTTCAGCTGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000145362_MULTIEX1-3/4=2-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.969 A=0.868 C2=0.398
Domain overlap (PFAM):
C1:
PF103904=ELL=FE(5.6=100)
A:
NO
C2:
PF103904=ELL=FE(20.0=100),PF0053117=Death=PU(30.0=57.7)
Other Inclusion Isoforms:
Other Skipping Isoforms:
Associated events
Other assemblies
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: 31285321
This event
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)