Special

HsaEX0042151 @ hg19

Exon Skipping

Gene
ENSG00000163046 | NCRNA00164
Description
ankyrin repeat domain 30B-like [Source:HGNC Symbol;Acc:35167]
Coordinates
chr2:132911105-132914719:-
Coord C1 exon
chr2:132914546-132914719
Coord A exon
chr2:132912235-132912341
Coord C2 exon
chr2:132911105-132911267
Length
107 bp
Sequences
Splice sites
3' ss Seq
TTGTTTTTGCTGTTTTACAGGCT
3' ss Score
10.44
5' ss Seq
ATGGTATAG
5' ss Score
2.86
Exon sequences
Seq C1 exon
GCTCTGCAATGCCAGAGGGAGGCTTGTGCAAATATTCTCATAGATTCTGGTGCTGATCCAAATATTGTAGATGTGTATGGCAACACAGCTGTCCATTATGCTGTTAACAGTGAGAATTTGTCAGTGGTGGCAAAATTGCTGTCCTGTGGTGCAGACATCGAAGTGAAGAACAAG
Seq A exon
GCTGGCCACACACCACTTTTACTGGCCATAAGGAAAAGAAGTGAGGAAATTGTGGAATTTTTACTGACAAAAAATGCAAATGCAAATGCAGTTGATAAGTTTAAATG
Seq C2 exon
CACAGCCCTCATGCTTGCCATATGTCATGGATCATCAGAGATAGTTGGCAAGCTTCTTCAGCAAAATGTTGACATCTGTGCTGAAGCTACATGTGGAATGATTGCAGAACGTTATGCTGTTGCTTGTGGATTTAATCTCTAAGTGTTTACATTTAAAGGCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163046-'3-7,'3-6,4-7
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0002325=Ank=PD(72.7=41.4),PF127962=Ank_2=PU(27.5=43.1)
A:
PF127962=Ank_2=PD(33.3=86.1)
C2:
PF127962=Ank_2=PD(31.9=60.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
([2])
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGAGGGAGGCTTGTGCAAAT
R:
CCACATGTAGCTTCAGCACAGA
Band lengths:
258-365
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development