Special

HsaEX6038676 @ 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
chr18:33282861-33290012:+
Coord C1 exon
chr18:33282861-33282959
Coord A exon
chr18:33283473-33283607
Coord C2 exon
chr18:33289588-33290012
Length
135 bp
Sequences
Splice sites
3' ss Seq
GTGTGCATTTTTATTTCCAGGTT
3' ss Score
10.22
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
Exon sequences
Seq C1 exon
ATACGAAATGTGGAAACGAATCAGTGTCTAGATAACATGGCTAGAAAAGAGAATGAAAAAGTTGGAATTTTTAATTGCCATGGTATGGGGGGTAATCAG
Seq A exon
GTTTTCTCTTATACTGCCAACAAAGAAATTAGAACAGATGACCTTTGCTTGGATGTTTCCAAACTTAATGGCCCAGTTACAATGCTCAAATGCCACCACCTAAAAGGCAACCAACTCTGGGAGTATGACCCAGTG
Seq C2 exon
AAATTAACCCTGCAGCATGTGAACAGTAATCAGTGCCTGGATAAAGCCACAGAAGAGGATAGCCAGGTGCCCAGCATTAGAGACTGCAATGGAAGTCGGTCCCAGCAGTGGCTTCTTCGAAACGTCACCCTGCCAGAAATATTCTGAGACCAAATTTACAAAAAAACGAAAAAAATAAGGATTGACTGGGCTACCTCAGCATACATTTCTGCCACATTCTTAAGTAGCAAAAAAGGAAAAGTGCTTTCCTCCTCTGCAGGATGTAAGGTTTATCAGCCATTAAAACTTAGACTTCTCTAGCTTTTCACTAGCTGTGAACCAGCCTTCCTGTCCATGGACGTGAAACTGCATAGTAATGAGACTGTGCACACTGATGTTTACAAGATTGAAAGAGTCTTTCTCCGAAAATCATGGTAAAGAATACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141429-'11-13,'11-12,12-13=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.125
Domain overlap (PFAM):

C1:
PF0065217=Ricin_B_lectin=FE(26.9=100)
A:
PF0065217=Ricin_B_lectin=FE(37.0=100)
C2:
PF0065217=Ricin_B_lectin=PD(30.3=73.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGAAATGTGGAAACGAATCAGTG
R:
AGAATATTTCTGGCAGGGTGACG
Band lengths:
242-377
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains