Special

HsaEX1003810 @ hg38

Exon Skipping

Gene
ENSG00000148513 | ANKRD30A
Description
ankyrin repeat domain 30A [Source:HGNC Symbol;Acc:HGNC:17234]
Coordinates
chr10:37216181-37219897:+
Coord C1 exon
chr10:37216181-37216394
Coord A exon
chr10:37217695-37217878
Coord C2 exon
chr10:37218980-37219897
Length
184 bp
Sequences
Splice sites
3' ss Seq
ATAAGTATGTTTAATGGCAGATT
3' ss Score
3.78
5' ss Seq
CAGGTAAAT
5' ss Score
8.76
Exon sequences
Seq C1 exon
ATTCAACTAGCCTATCAAAAATCTTGGATACAGTTCATTCTTGTGAAAGAGCAAGGGAACTTCAAAAAGATCACTGTGAACAACGTACAGGAAAAATGGAACAAATGAAAAAGAAGTTTTGTGTACTGAAAAAGAAACTGTCAGAAGCAAAAGAAATAAAATCACAGTTAGAGAACCAAAAAGTTAAATGGGAACAAGAGCTCTGCAGTGTGAG
Seq A exon
ATTGACTTTAAACCAAGAAGAAGAGAAGAGAAGAAATGCCGATATATTAAATGAAAAAATTAGGGAAGAATTAGGAAGAATCGAAGAGCAGCATAGGAAAGAGTTAGAAGTGAAACAACAACTTGAACAGGCTCTCAGAATACAAGATATAGAATTGAAGAGTGTAGAAAGTAATTTGAATCAG
Seq C2 exon
GTTTCTCACACTCATGAAAATGAAAATTATCTCTTACATGAAAATTGCATGTTGAAAAAGGAAATTGCCATGCTAAAACTGGAAATAGCCACACTGAAACACCAATACCAGGAAAAGGAAAATAAATACTTTGAGGACATTAAGATTTTAAAAGAAAAGAATGCTGAACTTCAGATGACCCTAAAACTGAAAGAGGAATCATTAACTAAAAGGGCATCTCAATATAGTGGGCAGCTTAAAGTTCTGATAGCTGAGAACACAATGCTCACTTCTAAATTGAAGGAAAAACAAGACAAAGAAATACTAGAGGCAGAAATTGAATCACACCATCCTAGACTGGCTTCTGCTGTACAAGACCATGATCAAATTGTGACATCAAGAAAAAGTCAAGAACCTGCTTTCCACATTGCAGGAGATGCTTGTTTGCAAAGAAAAATGAATGTTGATGTGAGTAGTACGATATATAACAATGAGGTGCTCCATCAACCACTTTCTGAAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148513_MULTIEX3-2/3=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.181 A=0.145 C2=0.412
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF149151=CCDC144C=WD(100=95.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGAACAAGAGCTCTGCAGTG
R:
TGCCCACTATATTGAGATGCCC
Band lengths:
258-442
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains