Special

HsaEX6007002 @ hg38

Exon Skipping

Gene
Description
RB associated KRAB zinc finger [Source:HGNC Symbol;Acc:HGNC:17680]
Coordinates
chr7:5057295-5067257:+
Coord C1 exon
chr7:5057295-5057421
Coord A exon
chr7:5057684-5057779
Coord C2 exon
chr7:5063695-5067257
Length
96 bp
Sequences
Splice sites
3' ss Seq
CCTTCTTTTCCCATTAACAGGAT
3' ss Score
11.2
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
GGGCCAGTGTCATTCAAAGATGTGGCTGTGGATTTCACCCAGGAGGAGTGGCAGCAGCTGGACCCTGATGAGAAGATAACTTACAGGGATGTGATGTTGGAGAACTATAGCCATCTAGTTTCTGTGG
Seq A exon
GATATGATACCACCAAGCCAAACGTCATCATTAAGTTGGAGCAGGGAGAGGAGCCGTGGATAATGGGAGGTGAATTTCCATGTCAACATAGTCCAG
Seq C2 exon
AAGCCTGGAGAGTTGATGACCTGATAGAGAGAATCCAAGAAAACGAAGACAAACATTCAAGGCAAGCTGCTTGTATCAATAGCAAAACCCTGACTGAAGAGAAAGAGAATACATTTAGTCAAATTTACATGGAAACAAGCCTTGTTCCTTCAAGCATAATAGCTCATAATTGTGTCTCATGTGGAAAGAATTTAGAATCTATTTCGCAATTAATTAGTAGTGATGGAAGCTATGCTAGGACAAAACCTGATGAGTGTAATGAATGTGGGAAAACATATCATGGAGAGAAAATGTGTGAATTTAATCAAAATGGGGATACCTATTCTCACAATGAAGAAAATATTCTTCAGAAAATTAGTATTTTGGAGAAACCCTTTGAATATAATGAATGCATGGAAGCCTTAGACAATGAGGCTGTTTTTATTGCTCATAAGAGAGCTTACATAGGGGAGAAGCCCTATGAGTGGAATGATTCTGGACCAGACTTCATACAGATGTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000146587-'5-8,'5-7,6-8=AN
Average complexity
A_NA
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.061 C2=0.050
Domain overlap (PFAM):

C1:
PF0135222=KRAB=WD(100=95.3)
A:
PF0135222=KRAB=PD(0.1=0.0)
C2:
PF134651=zf-H2C2_2=WD(100=3.9),PF134651=zf-H2C2_2=WD(100=3.8),PF134651=zf-H2C2_2=WD(100=3.8),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=3.9),PF134651=zf-H2C2_2=WD(100=3.9),PF134651=zf-H2C2_2=WD(100=3.8),PF134651=zf-H2C2_2=WD(100=3.9),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.1),PF134651=zf-H2C2_2=WD(100=4.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
([1])
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGTGGATTTCACCCAGGAG
R:
CAAGCAGCTTGCCTTGAATGT
Band lengths:
176-272
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains