HsaEX1015179 @ hg38
Exon Skipping
Gene
ENSG00000144278 | GALNT13
Description
polypeptide N-acetylgalactosaminyltransferase 13 [Source:HGNC Symbol;Acc:HGNC:23242]
Coordinates
chr2:154438592-154453849:+
Coord C1 exon
chr2:154438592-154438726
Coord A exon
chr2:154441679-154441812
Coord C2 exon
chr2:154450411-154453849
Length
134 bp
Sequences
Splice sites
3' ss Seq
CATCACCTTATCTCCCATAGTCC
3' ss Score
7.63
5' ss Seq
TAGGTGAGT
5' ss Score
8.83
Exon sequences
Seq C1 exon
GTATTTTCTTACACTGCTGACAAAGAAATCCGAACCGATGACTTGTGCTTGGATGTTTCTAGACTCAATGGACCTGTAATCATGTTAAAATGCCACCATATGAGAGGAAATCAGTTATGGGAATATGATGCTGAG
Seq A exon
TCCTTTCAATCTTAGAAAAGAAAGTCATAAATAGAAGCAAGATTGTTGGAATATCCAGAGAAAAATGGAAACAGTGTCATGAAGCCTCAAAAGATGGAATCTATCCAGCTACTTTGGTTTTGTTTACTTCTTAG
Seq C2 exon
AGACTCACGTTGCGACATGTTAACAGTAACCAATGTCTCGATGAACCTTCTGAAGAAGACAAAATGGTGCCTACAATGCAGGACTGTAGTGGAAGCAGATCCCAACAGTGGCTGCTAAGGAACATGACCTTGGGCACATGAAGATCATGTCCTCCAAGCCATGAAAGTGTCTACGCTTTTGTTTTTCCATTATTTCAATTGGGGGAAAATATTAACTTTGCTGAATTGAAAGTTTTAAAAATCCTTTTAGTATTCTAAAACACAATTGTTTCTAATTCGTTTCTAGAAATGTTTGCTTATTTCCCTACTAAAATTTGTATCTGATCAAAGCACATAAGAATATAAATAATAGCAAACTACTATTAAACAACAGAACAACTTGTAAAACAAATTGTGTTTGCTTTAAGAAAAATGTTTATTGCACTCATGTCATAGGGTTAATTGGAGGTTATTTTATTTTTGGTTGTCATGGTGATTGAAAGAGATAATGTAAATGCCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144278_MULTIEX2-1/3=C1-C2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.006 A=0.000 C2=0.284
Domain overlap (PFAM):
C1:
PF0065217=Ricin_B_lectin=PU(53.0=97.8)
A:
PF0065217=Ricin_B_lectin=PD(3.5=60.0)
C2:
PF0065217=Ricin_B_lectin=PD(30.3=76.6)
Main Inclusion Isoform:
ENST00000392825fB16109
Other Inclusion Isoforms:
NA
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:
ATCCGAACCGATGACTTGTGC
R:
ATGTGCCCAAGGTCATGTTCC
Band lengths:
247-381
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains