HsaEX6084748 @ hg38
Exon Skipping
Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4 member 4 [Source:HGNC Symbol;Acc:HGNC:11030]
Coordinates
chr4:71547648-71557885:+
Coord C1 exon
chr4:71547648-71547720
Coord A exon
chr4:71555140-71555208
Coord C2 exon
chr4:71557712-71557885
Length
69 bp
Sequences
Splice sites
3' ss Seq
ATCCATTTTTTTCCTTCTAGTTT
3' ss Score
8.46
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
GGAACAAAGAGTCACTGGAACCCTTGTGTTTATTCTGACTGGTCTGTCAGTCTTTATGGCTCCCATCTTGAAG
Seq A exon
TTTATACCCATGCCTGTACTCTATGGTGTGTTCCTGTATATGGGAGTAGCATCCCTTAATGGTGTGCAG
Seq C2 exon
TTCATGGATCGTCTGAAGCTGCTTCTGATGCCTCTGAAGCATCAGCCTGACTTCATCTACCTGCGTCATGTTCCTCTGCGCAGAGTCCACCTGTTCACTTTCCTGCAGGTGTTGTGTCTGGCCCTGCTTTGGATCCTCAAGTCAACGGTGGCTGCTATCATTTTTCCAGTAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080493-'70-77,'70-75,73-77
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0095516=HCO3_cotransp=FE(4.6=100)
A:
PF0095516=HCO3_cotransp=FE(4.2=100)
C2:
PF0095516=HCO3_cotransp=PD(6.5=58.6),PF103594=Fmp27_WPPW=PU(0.1=0.0)
Main Skipping Isoform:
ENST00000264485fB26132
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGTCACTGGAACCCTTGTGT
R:
TGCAGGAAAGTGAACAGGTGG
Band lengths:
172-241
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains