HsaEX6084752 @ hg38
Exon Skipping
Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4 member 4 [Source:HGNC Symbol;Acc:HGNC:11030]
Coordinates
chr4:71451188-71466577:+
Coord C1 exon
chr4:71451188-71451301
Coord A exon
chr4:71453495-71453669
Coord C2 exon
chr4:71466444-71466577
Length
175 bp
Sequences
Splice sites
3' ss Seq
TTTGCATTCTCTCTGCCCAGGTT
3' ss Score
8.88
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
AAAGAATATGTACTCAGGTGGAGAGAATGTTCAGATGAATGGGGATACGCCCCATGATGGAGGTCACGGAGGAGGAGGACATGGGGATTGTGAAGAATTGCAGCGAACTGGACG
Seq A exon
GTTCTGTGGTGGACTAATTAAAGACATAAAGAGGAAAGCGCCATTTTTTGCCAGTGATTTTTATGATGCTTTAAATATTCAAGCTCTTTCGGCAATTCTCTTCATTTATCTGGCAACTGTAACTAATGCTATCACTTTTGGAGGACTGCTTGGGGATGCCACTGACAACATGCAG
Seq C2 exon
GGCGTGTTGGAGAGTTTCCTGGGCACTGCTGTCTCTGGAGCCATCTTTTGCCTTTTTGCTGGTCAACCACTCACTATTCTGAGCAGCACCGGACCTGTCCTAGTTTTTGAGAGGCTTCTATTTAATTTCAGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080493-'43-59,'43-54,45-59
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.769 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0095516=HCO3_cotransp=PU(1.1=15.4)
A:
PF0095516=HCO3_cotransp=FE(11.1=100)
C2:
PF0095516=HCO3_cotransp=FE(39.3=100)
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:
TCAGGTGGAGAGAATGTTCAGA
R:
TGCTGAAATTAAATAGAAGCCTCTCA
Band lengths:
234-409
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains