Special

HsaEX6066576 @ hg38

Exon Skipping

Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51424771-51451022:+
Coord C1 exon
chr12:51424771-51425035
Coord A exon
chr12:51440708-51440789
Coord C2 exon
chr12:51450876-51451022
Length
82 bp
Sequences
Splice sites
3' ss Seq
ACTTATTTGTGTTTAAACAGAGA
3' ss Score
7.79
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
GTGCTCCGCGCCCTGATTGGCTGCGCAGGCCTCTCGCTGATTGGTTGCGGCGGATGCCTCGCGGGCCGGTGGCTATGGAGGCGGCGGCGGTTGATGGTTGACCGTTGGCTCCGGGGTGGGGGTCGCCGTTCGAGTGATCTGCTCAGACCCGACCAGAGGGCGCGGGCTGCTGATGCTTGGCTTGGAGCCCGTGGGGGAGACCTAGTTCGGCTCCGCCATGCCGGCCGCCGGGAGTAACGAGCCGGACGGCGTCCTCAGCTATCAG
Seq A exon
AGACCAGATGAAGAAGCTGTGGTGGATCAGGGTGGGACCAGTACAATTCTCAACATTCACTATGAAAAAGAAGAGCTGGAAG
Seq C2 exon
GTCACAGAACTCTGTATGTGGGAGTTCGGATGCCGCTTGGCCGGCAGAGCCATCGGCATCACCGCACTCATGGCCAGAAGCACCGGAGACGAGGGCGGGGCAAAGGAGCCAGCCAGGGGGAGGAAGGCCTGGAAGCCCTGGCCCACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438-'6-24,'6-19,9-24
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.786 C2=0.967
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
ALTERNATIVE
Primers PCR
Suggestions for RT-PCR validation
F:
CCGTTCGAGTGATCTGCTCAG
R:
GGCATCCGAACTCCCACATAC
Band lengths:
174-256
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains