Special

HsaEX6084746 @ hg38

Exon Skipping

Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4 member 4 [Source:HGNC Symbol;Acc:HGNC:11030]
Coordinates
chr4:71557712-71563889:+
Coord C1 exon
chr4:71557712-71557885
Coord A exon
chr4:71560093-71560254
Coord C2 exon
chr4:71563793-71563889
Length
162 bp
Sequences
Splice sites
3' ss Seq
TTTAATATTTGCTCTTTCAGATC
3' ss Score
11.38
5' ss Seq
GATGTAAGG
5' ss Score
6.35
Exon sequences
Seq C1 exon
TTCATGGATCGTCTGAAGCTGCTTCTGATGCCTCTGAAGCATCAGCCTGACTTCATCTACCTGCGTCATGTTCCTCTGCGCAGAGTCCACCTGTTCACTTTCCTGCAGGTGTTGTGTCTGGCCCTGCTTTGGATCCTCAAGTCAACGGTGGCTGCTATCATTTTTCCAGTAATG
Seq A exon
ATCTTGGCACTTGTAGCTGTCAGAAAAGGCATGGACTACCTCTTCTCCCAGCACGACCTCAGCTTCCTGGATGATGTCATTCCAGAAAAGGACAAGAAAAAGAAGGAGGATGAGAAGAAAAAGAAAAAGAAGAAGGGAAGTCTGGACAGTGACAATGATGAT
Seq C2 exon
TCTGACTGCCCATACTCAGAAAAAGTTCCAAGTATTAAAATTCCAATGGACATCATGGAACAGCAACCTTTCCTAAGCGATAGCAAACCTTCTGACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080493-'76-82,'76-78,77-82=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=0.405 C2=0.318
Domain overlap (PFAM):

C1:
PF0095516=HCO3_cotransp=PD(6.5=58.6),PF103594=Fmp27_WPPW=PU(0.1=0.0)
A:
PF103594=Fmp27_WPPW=FE(70.7=100)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
CTGAAGCTGCTTCTGATGCCT
R:
TCGCTTAGGAAAGGTTGCTGT
Band lengths:
242-404
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains