Special

HsaEX0042151 @ hg38

Exon Skipping

Gene
ENSG00000163046 | ANKRD30BL
Description
ankyrin repeat domain 30B like [Source:HGNC Symbol;Acc:HGNC:35167]
Coordinates
chr2:132150912-132157146:-
Coord C1 exon
chr2:132156973-132157146
Coord A exon
chr2:132154662-132154768
Coord C2 exon
chr2:132150912-132150976
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
CGTTCATCAACAACTTTTGGAATATAAACAAAAGATATCTAAAAATTCTCAAAATAGTAATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163046-'4-14,'4-11,7-14=AN
Average complexity
A_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=0.522
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:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000409867fB9389


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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