HsaEX6038680 @ hg19
Exon Skipping
Gene
ENSG00000141429 | GALNT1
Description
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) [Source:HGNC Symbol;Acc:4123]
Coordinates
chr18:33266980-33271156:+
Coord C1 exon
chr18:33266980-33267150
Coord A exon
chr18:33269137-33269254
Coord C2 exon
chr18:33270976-33271156
Length
118 bp
Sequences
Splice sites
3' ss Seq
ATAGCATTATTGAATTTCAGGAC
3' ss Score
5.21
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
GAGAACAGTGGTGTGTCCCATCATCGATGTGATCAGTGATGATACTTTTGAGTACATGGCAGGCTCTGATATGACCTATGGTGGGTTCAACTGGAAGCTCAATTTTCGCTGGTATCCTGTTCCCCAAAGAGAAATGGACAGAAGGAAAGGTGATCGGACTCTTCCTGTCAG
Seq A exon
GACACCTACCATGGCAGGAGGCCTTTTTTCAATAGACAGAGATTACTTTCAGGAAATTGGAACATATGATGCTGGAATGGATATTTGGGGAGGAGAAAACCTAGAAATTTCCTTTAGG
Seq C2 exon
ATTTGGCAGTGTGGAGGAACTTTGGAAATTGTTACATGCTCACATGTTGGACATGTGTTTCGGAAAGCTACACCTTACACGTTTCCAGGAGGCACAGGGCAGATTATCAATAAAAATAACAGACGACTTGCAGAAGTGTGGATGGATGAATTCAAGAATTTCTTCTATATAATTTCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141429-'7-9,'7-8,8-9=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.103 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0053521=Glycos_transf_2=FE(30.8=100)
A:
PF0053521=Glycos_transf_2=PD(8.6=40.0)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGGTGTGTCCCATCATCGA
R:
GCCTCCTGGAAACGTGTAAGG
Band lengths:
258-376
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)