HsaEX6031625 @ hg38
Exon Skipping
Gene
ENSG00000116791 | CRYZ
Description
crystallin zeta [Source:HGNC Symbol;Acc:HGNC:2419]
Coordinates
chr1:74705486-74710247:-
Coord C1 exon
chr1:74710098-74710247
Coord A exon
chr1:74706899-74706994
Coord C2 exon
chr1:74705486-74706457
Length
96 bp
Sequences
Splice sites
3' ss Seq
ATTGCTGTTTTTCATGTTAGGTT
3' ss Score
9.26
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
GTTGGATTAGCAGCATGCCAAATTGCTAGAGCTTATGGCTTAAAGATTTTGGGCACTGCTGGTACTGAGGAAGGACAAAAGATTGTTTTGCAAAATGGAGCCCATGAAGTGTTCAATCACAGAGAAGTGAATTACATTGATAAAATTAAG
Seq A exon
GTTGTTGGCAGCAGAGGTACTATTGAAATAAACCCACGAGACACCATGGCAAAGGAGTCGAGTATAATTGGAGTTACTCTCTTTTCCTCAACCAAG
Seq C2 exon
GAGGAATTTCAGCAATATGCAGCAGCCCTTCAAGCTGGAATGGAAATTGGCTGGTTGAAACCTGTGATAGGTTCTCAATATCCATTGGAGAAGGTGGCCGAGGCTCATGAAAATATCATTCATGGTAGTGGGGCTACTGGAAAAATGATTCTTCTCTTATGATGATTAATTCTTTCATGGATTTCCTATGTAATTAGAGGTACTGTCTTTCCCCCAGTTGTACTTACCCTATCTTTTCTTTAATTAACATTCGATTCCATGAGCTTCTTATGTGAAAAAATAAGATTTTTCTTTAGAGAGCAGAAGCAGAAGAGTAAAATTTATTGTATAGCTAGCAATATTTTTTTATGCCATCTGTCTCAAATCAAAGAGTCATCATAGTAGGAAATAACATGTTAGTTGTCATTTGGCATGAGTGTGCATTCCAGTAATTCTTAATTGATATTTGATTAATTCCATACCTTTGATTAAAACATGCTAGTTCAAAATAAGACTGCTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000116791_MULTIEX1-2/2=C1-C2
Average complexity
C2
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=0.000
Domain overlap (PFAM):
C1:
PF122423=Eno-Rase_NADH_b=PD(47.2=50.0),PF136021=ADH_zinc_N_2=FE(33.3=100)
A:
PF136021=ADH_zinc_N_2=FE(21.1=100)
C2:
PF0010721=ADH_zinc_N=PD(8.5=20.4)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAAAATGGAGCCCATGAAGT
R:
ATTTTCATGAGCCTCGGCCAC
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