Special

HsaEX6084747 @ hg19

Exon Skipping

Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4, sodium bicarbonate cotransporter, member 4 [Source:HGNC Symbol;Acc:11030]
Coordinates
chr4:72420857-72425971:+
Coord C1 exon
chr4:72420857-72420925
Coord A exon
chr4:72423429-72423602
Coord C2 exon
chr4:72425810-72425971
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-'24-25,'24-24,25-25=AN
Average complexity
A_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=0.407
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(63.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
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