Special

HsaEX6054826 @ hg38

Exon Skipping

Gene
ENSG00000033867 | SLC4A7
Description
solute carrier family 4 member 7 [Source:HGNC Symbol;Acc:HGNC:11033]
Coordinates
chr3:27400764-27404963:-
Coord C1 exon
chr3:27404830-27404963
Coord A exon
chr3:27403139-27403384
Coord C2 exon
chr3:27400764-27400869
Length
246 bp
Sequences
Splice sites
3' ss Seq
ATATTTTTCTTTCTAAACAGAGA
3' ss Score
9.58
5' ss Seq
CTCGTAAGT
5' ss Score
9.63
Exon sequences
Seq C1 exon
AGTGCAATAGAGTCTCTTTTTGGAGCATCATTAACTGGGATTGCCTATTCATTGTTTGCTGGGCAACCTCTAACAATATTGGGGAGCACAGGTCCAGTTCTAGTGTTTGAAAAAATTTTATATAAATTCTGCAG
Seq A exon
AGATTATCAACTTTCTTATCTGTCTTTAAGAACCAGTATTGGTCTGTGGACTTCTTTTTTGTGCATTGTTTTGGTTGCAACAGATGCAAGCAGCCTTGTGTGTTATATTACTCGATTTACAGAAGAGGCTTTTGCAGCCCTTATTTGCATCATATTCATCTACGAGGCTTTGGAGAAGCTCTTTGATTTAGGAGAAACATATGCATTTAATATGCACAACAACTTAGATAAACTGACCAGCTACTC
Seq C2 exon
ATGTGTATGTACTGAACCTCCAAACCCCAGCAATGAAACTCTAGCACAATGGAAGAAAGATAATATAACAGCACACAATATTTCCTGGAGAAATCTTACTGTTTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033867-'48-49,'48-41,50-49
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.015 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0095516=HCO3_cotransp=FE(22.0=100)
A:
PF0095516=HCO3_cotransp=FE(15.9=100)
C2:
PF0095516=HCO3_cotransp=FE(6.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAATAGAGTCTCTTTTTGGAGCA
R:
AGAAACAGTAAGATTTCTCCAGGA
Band lengths:
238-484
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains