HsaEX6084747 @ hg38
Exon Skipping
Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4 member 4 [Source:HGNC Symbol;Acc:HGNC:11030]
Coordinates
chr4:71555140-71560254:+
Coord C1 exon
chr4:71555140-71555208
Coord A exon
chr4:71557712-71557885
Coord C2 exon
chr4:71560093-71560254
Length
174 bp
Sequences
Splice sites
3' ss Seq
CTTTCCTCTTTCCTCCCCAGTTC
3' ss Score
12.05
5' ss Seq
ATGGTAGGG
5' ss Score
5.88
Exon sequences
Seq C1 exon
TTTATACCCATGCCTGTACTCTATGGTGTGTTCCTGTATATGGGAGTAGCATCCCTTAATGGTGTGCAG
Seq A exon
TTCATGGATCGTCTGAAGCTGCTTCTGATGCCTCTGAAGCATCAGCCTGACTTCATCTACCTGCGTCATGTTCCTCTGCGCAGAGTCCACCTGTTCACTTTCCTGCAGGTGTTGTGTCTGGCCCTGCTTTGGATCCTCAAGTCAACGGTGGCTGCTATCATTTTTCCAGTAATG
Seq C2 exon
ATCTTGGCACTTGTAGCTGTCAGAAAAGGCATGGACTACCTCTTCTCCCAGCACGACCTCAGCTTCCTGGATGATGTCATTCCAGAAAAGGACAAGAAAAAGAAGGAGGATGAGAAGAAAAAGAAAAAGAAGAAGGGAAGTCTGGACAGTGACAATGATGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080493-'73-78,'73-77,76-78
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=0.405
Domain overlap (PFAM):
C1:
PF0095516=HCO3_cotransp=FE(4.2=100)
A:
PF0095516=HCO3_cotransp=PD(6.5=58.6),PF103594=Fmp27_WPPW=PU(0.1=0.0)
C2:
PF103594=Fmp27_WPPW=FE(70.7=100)
Main Skipping Isoform:
ENST00000264485fB26133
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCCATGCCTGTACTCTATGGT
R:
ATCATCATTGTCACTGTCCAGACT
Band lengths:
226-400
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains