HsaEX0063575 @ hg38
Exon Skipping
Gene
ENSG00000136560 | TANK
Description
TRAF family member associated NFKB activator [Source:HGNC Symbol;Acc:HGNC:11562]
Coordinates
chr2:161179614-161203595:+
Coord C1 exon
chr2:161179614-161179761
Coord A exon
chr2:161202863-161202979
Coord C2 exon
chr2:161203487-161203595
Length
117 bp
Sequences
Splice sites
3' ss Seq
TCATTGCTTTATTCTCACAGTCA
3' ss Score
6.6
5' ss Seq
CTGGTCAGT
5' ss Score
6.6
Exon sequences
Seq C1 exon
ACCTGTCATTTACTCCATCCTTTATAGTGATGCTACAGGACGAAGAGGAATGGATAAAAACATTGGCGAGCAACTCAATAAAGCGTATGAAGCCTTCCGGCAGGCATGCATGGATAGAGATTCTGCAGTAAAAGAATTACAGCAAAAG
Seq A exon
TCACTGCAATAACATAGCAAAATTAATGGATTAACAATATAAGGGAAACTGGCATTTAAGACACCAAAGGTCAACTATATTCTCTTAATTTCTTAAAACTTAGTGGAGAAGTTTCTG
Seq C2 exon
ACTGAGAACTATGAGCAGAGAATACGTGAACAACAGGAACAGCTGTCACTTCAACAGACTATTATTGACAAGCTAAAATCTCAGTTACTTCTTGTGAATTCCACTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136560_MULTIEX2-2/11=C1-3
Average complexity
S
Mappability confidence:
93%=100=93%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.282 A=0.333 C2=0.277
Domain overlap (PFAM):
C1:
PF040127=PspA_IM30=PU(46.3=93.9),PF125063=DUF3713=PU(39.5=90.9),PF041569=IncA=PU(39.2=87.9)
A:
NO
C2:
PF040127=PspA_IM30=PD(49.2=86.5),PF041569=IncA=FE(36.4=100),PF125063=DUF3713=FE(42.4=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTGTCATTTACTCCATCCTTT
R:
GTGGAATTCACAAGAAGTAACTGAGA
Band lengths:
252-369
Functional annotations
There are 1 annotated functions for this event
PMID: 31911676
[CRISPR screen]. Non-conserved poison exon with negative fitness/survivability impact when depleted: HeLa No Change at 14 days (FC=1.134, FDR=0.078), PC9 No Change at 14 days (FC=1.193, FDR=0.169), Late Xenograft Depleted (FC=0.761, FDR=0.004).
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development