Special

HsaEX1015177 @ hg38

Exon Skipping

Gene
ENSG00000144278 | GALNT13
Description
polypeptide N-acetylgalactosaminyltransferase 13 [Source:HGNC Symbol;Acc:HGNC:23242]
Coordinates
chr2:154242698-154245982:+
Coord C1 exon
chr2:154242698-154242905
Coord A exon
chr2:154244545-154244674
Coord C2 exon
chr2:154245812-154245982
Length
130 bp
Sequences
Splice sites
3' ss Seq
TATGTGCTTTTCATATCTAGGGA
3' ss Score
9.99
5' ss Seq
AAGGTTGGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
ATTTTCTCAAGTTGACATTAGAGAATTACGTGAAAAATTTAGAAGTGCCAGTAAAAATTATTAGGATGGAAGAACGCTCTGGGTTAATACGTGCCCGTCTTCGAGGAGCAGCTGCTTCAAAAGGGCAGGTCATAACTTTTCTTGATGCACACTGTGAATGCACGTTAGGATGGCTGGAGCCTTTGCTGGCAAGAATAAAGGAAGACAG
Seq A exon
GGATGATTCAGAAGCTTATTTGTGTATTTACCTTCTACCAAATATGAAAAACCAACTCTGGTCTTCAGAATTAGCTACAACCAATACAATTTGAGTAGGCCTGAACATTTACTTGTGGAAATCACAGAAG
Seq C2 exon
GAAAACGGTTGTCTGCCCTATCATTGATGTGATTAGTGATGATACTTTTGAATATATGGCTGGGTCAGACATGACTTATGGGGGTTTTAACTGGAAACTGAATTTCCGCTGGTATCCTGTTCCCCAAAGAGAAATGGACAGGAGGAAAGGAGACAGAACATTACCTGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144278-'28-25,'28-24,29-25
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.103
Domain overlap (PFAM):

C1:
PF0053521=Glycos_transf_2=FE(37.3=100)
A:
PF0053521=Glycos_transf_2=PD(15.8=65.6)
C2:
PF0053521=Glycos_transf_2=FE(30.8=100)


Main Inclusion Isoform:
ENST00000392825fB16107


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
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:
CTGGGTTAATACGTGCCCGTC
R:
GGGAACAGGATACCAGCGGAA
Band lengths:
254-384
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains