HsaEX6066568 @ hg38
Exon Skipping
Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51493704-51497124:+
Coord C1 exon
chr12:51493704-51493772
Coord A exon
chr12:51494945-51495118
Coord C2 exon
chr12:51496987-51497124
Length
174 bp
Sequences
Splice sites
3' ss Seq
TGCCAGTTCCTTCCTTTCAGTTC
3' ss Score
8.7
5' ss Seq
ATGGTGAGG
5' ss Score
7.61
Exon sequences
Seq C1 exon
TTTATTCCAATGCCAGTACTCTACGGAGTTTTCCTTTACATGGGAGTTTCTTCACTACAGGGAATTCAG
Seq A exon
TTCTTTGATCGTCTAAAGCTCTTTGGGATGCCCGCAAAGCACCAGCCAGATTTCATCTACCTGCGGCATGTGCCGCTGCGCAAAGTGCACCTCTTCACCCTCATCCAGTTGACCTGTCTCGTCCTGCTCTGGGTCATCAAGGCATCTCCAGCTGCCATTGTTTTCCCAATGATG
Seq C2 exon
GTTTTGGCCTTGGTCTTTGTCAGGAAAGTCATGGATCTCTGTTTCTCTAAGCGAGAGCTGAGCTGGCTAGATGATCTCATGCCTGAAAGCAAAAAGAAGAAGTTGGATGATGCCAAAAAGAAGGCCAAGGAGGAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438-'54-70,'54-68,58-70=AN
Average complexity
A_C1
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=0.239
Domain overlap (PFAM):
C1:
PF0095516=HCO3_cotransp=FE(4.3=100)
A:
PF0095516=HCO3_cotransp=PD(6.6=58.6)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCAATGCCAGTACTCTACGGA
R:
CTCTTCCTCCTTGGCCTTCTT
Band lengths:
202-376
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains