Special

HsaEX6006072 @ hg38

Exon Skipping

Gene
Description
chloride intracellular channel 6 [Source:HGNC Symbol;Acc:HGNC:2065]
Coordinates
chr21:34708700-34718227:+
Coord C1 exon
chr21:34708700-34708806
Coord A exon
chr21:34709357-34709538
Coord C2 exon
chr21:34716321-34718227
Length
182 bp
Sequences
Splice sites
3' ss Seq
TTCTTGCCCTTCTGTTTTAGTTC
3' ss Score
10.6
5' ss Seq
AAGGTTCAT
5' ss Score
4.34
Exon sequences
Seq C1 exon
GTATCCCAAGCTGGGGACCCAACATCCCGAATCTAATTCCGCAGGAAATGACGTGTTTGCCAAATTCTCAGCGTTTATAAAAAACACGAAGAAGGATGCAAATGAGA
Seq A exon
TTCATGAAAAGAACCTGCTGAAGGCCCTGAGGAAGCTGGATAATTACTTAAATAGCCCTCTGCCTGATGAAATAGATGCCTACAGCACCGAGGATGTCACTGTTTCTGGAAGGAAGTTTCTGGATGGGGACGAGCTGACGCTGGCTGACTGCAACCTCTTACCCAAGCTCCATATTATTAAG
Seq C2 exon
ATTGTGGCCAAGAAGTACAGAGATTTTGAATTTCCTTCTGAAATGACTGGCATCTGGAGATACTTGAATAATGCTTATGCTAGAGATGAGTTCACAAATACGTGTCCAGCTGATCAAGAGATTGAACACGCATATTCAGATGTTGCAAAAAGAATGAAATGAAGCTGGGCTGTTTTCTGTCTTATTTCTCAGTTGAGTGAGCAAGGATACGAAAACAGTGTGTTTGAAAACAAATTAGGTTTGGGTTCAATTCCTTCAATTTTTAAAAAACTGGTCTCTGAGAGTTTTTTAAATCATTGAGAGCCTGTTTTTCTTCTCTAAAACATTAGTTTAATTTTCTTCAAAATGAAAATACTGCTTTGTAATTACAAAATGAGACACACCTATCTTGATATTTTAAAGCAATATCAGAGGGTGTAAAGAAGGACATTTTAACAATCGCCTTCAATTTTACTCCACTTAATTACCGAAAACTTACTGGAGAACATGTTCCAAATCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000159212-'8-6,'8-5,9-6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

No structure available
Features
Disorder rate (Iupred):
  C1=0.234 A=0.016 C2=0.000
Domain overlap (PFAM):

C1:
PF134171=GST_N_3=PD(0.1=0.0),PF134101=GST_C_2=PU(17.5=48.6)
A:
PF134101=GST_C_2=FE(58.3=100)
C2:
PF134101=GST_C_2=PD(22.3=42.6)


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:
GCAGGAAATGACGTGTTTGCC
R:
ACAGAAAACAGCCCAGCTTCA
Band lengths:
247-429
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains