HsaEX6084756 @ hg38
Exon Skipping
Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4 member 4 [Source:HGNC Symbol;Acc:HGNC:11030]
Coordinates
chr4:71397577-71450543:+
Coord C1 exon
chr4:71397577-71397653
Coord A exon
chr4:71440616-71440773
Coord C2 exon
chr4:71450389-71450543
Length
158 bp
Sequences
Splice sites
3' ss Seq
CCTTGGTTCTTCTCATGCAGCTG
3' ss Score
8.91
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
Exon sequences
Seq C1 exon
GTAGCCCAGCCATGACCCATAGGAATCTGACTTCCTCCAGTCTGAATGACATTTCTGATAAACCGGAGAAGGACCAG
Seq A exon
CTGAAGAATAAGTTCATGAAAAAATTGCCACGTGATGCAGAAGCTTCCAACGTGCTTGTTGGGGAGGTTGACTTTTTGGATACTCCTTTCATTGCCTTTGTTAGGCTACAGCAGGCTGTCATGCTGGGTGCCCTGACTGAAGTTCCTGTGCCCACAAG
Seq C2 exon
GTGTTCCATGACATTGCTTATAAAGCAAAAGACAGGCACGACCTGATTGCTGGTATTGATGAGTTCCTAGATGAAGTCATCGTCCTTCCACCTGGGGAATGGGATCCAGCAATTAGGATAGAGCCTCCTAAGAGTCTTCCATCCTCTGACAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080493_MULTIEX1-9/22=8-11
Average complexity
C3
Mappability confidence:
85%=85=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.846 A=0.132 C2=0.212
Domain overlap (PFAM):
C1:
PF075658=Band_3_cyto=FE(16.9=100)
A:
PF075658=Band_3_cyto=FE(20.6=100)
C2:
PF075658=Band_3_cyto=PD(14.3=69.2)
Main Skipping Isoform:
ENST00000264485fB26129
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TAGCCCAGCCATGACCCATAG
R:
TGTCAGAGGATGGAAGACTCT
Band lengths:
227-385
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains