HsaINT0131701 @ hg38
Intron Retention
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63562520-63566453:-
Coord C1 exon
chr20:63566378-63566453
Coord A exon
chr20:63566232-63566377
Coord C2 exon
chr20:63562520-63566231
Length
146 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
3' ss Seq
TGACTGCGTGCCCCCTGCAGGGC
3' ss Score
9.93
Exon sequences
Seq C1 exon
GTCAGTGCACTGAGGCAGGAGCTGAGGAGGCGGGACCTAGGCCAGGTGTCTGTCGGCAGTTTTGAGATCCTGCCAG
Seq A exon
GTGGGTGACCAGCGGGGCCAGGTGCTGCCAGCTGCCCCAGGATACCCCGGGTGGCTCGGCCCACTCCTCAGCCTGGCATCGGCAGGGGTGGGGCTGGTCCCACCGTCTTGCGCACCCAGCCTGACCTGACTGCGTGCCCCCTGCAG
Seq C2 exon
GGCGGCAGTTCCGGGTCGTGGTGCTCAGCACTGTGCACACCTGCCAGAGCCTGCTCAGCCCTGGGGCACTGGCCCCTGAGTTCTTCACCGACGCCCGCGTGCTCAACACCGTCCTGACCCGCGCCCAGTCCCAGCTGGTGGTAGTGGGGGACGCCGTGGCCCTCTGCTCCTTCGGGGCCTGCGGCAAGCTCTGGGAGAGCTTCATCCGTGAGTGCGTGGAGCGGCACAGTGTCTGCCCCGAGGGCCTGTCCATGGAGCAGGTCGAGCAGGGTGTGGCGCAGAGACGGCGCTGGCCTCCCCGAGGCACACAGGCTGGGGCAGCGGGGAACTGGGAGGCTGCCCCAGAGCCAGTAGGGGACCTGGCCGAGGAGCAGGCGGCTGTGGTGACGGCCATGGTGAAGGCAGAGCCGGGAGATGAGGCTCTGAGCCCAGCATCCCGTGACATCACGGCAACCACAGCGCAGACGGAGGCTGCGGCAGCACCAGCAGGAGACGCAGTGAAGGAAGACGTGGTGCCCGGGGCCTGTGCGGCAGGAGCGGCTGCTGCAGCGGGCGTGGAGTCCACGGAGGCTGAGGATGCAGAGGCTGACTTCTGGCCGTGGGACGGGGAGCTCAACGCTGACGACGCCATCCTACGGGAGCTTCTGGACGAGAGCCAGAAGGTGATGGTGACCGTCGGGGAGGACGGGCTGCTGGACACTGTCGCCAGGCCCGAGTCCCTGCAGCAGGCCCGGCTGTACGAGAACCTGCCCCCGGCTGCGCTACGGAAGCTGCTGCACGCGGAGCCCGAGCGGTACCGCCACTGCTCTTTCGTGCCAGAGACCTTCGAGCGGGCGTCAGCCATCCCGCTGGACGATGCCTCCTCGGGCCCCATCCAGGTCAGGGGCCGCCTGGACTGTGGGATGGCCTTCGCCGGGGATGAGGTGCTGGTGCAGCTCCTTTCGGGAGACAAGGCGCCCGAGGGGCGGCTTCGGGGCCGCGTGCTGGGCGTGCTGAAGAGGAAGAGGCACGAGCTGGCGTTTGTGTGCCGCATGGACACGTGGGACCCGCGCATCATGGTCCCCATCAATGGCTCCGTGACCAAGATCTTCGTGGCCGAGCTGAAGGACCCATCGCAGGTCCCCATCTACAGCCTCCGGAAGGGCCGGCTGCAGCGTGTGGGGCTTGAGAGGCTCACCGCCGAGGCCCGGCACAGCCGGCTCTTCTGGGTCCAAATTGTCCTGTGGCGGCAAGGCTTCTACTACCCGCTGGGCATCGTCCGGGAGGTGCTGCCTGAGGCCAGCACCTGGGAGCAGGGCCTCCGCATCCTCGGCCTGGAGTACAGCTTGAGGGTGCCCCCGTCGGACCAGGCCACCATCACCAAGGTGCTGCAGAAATACCACACGGAGCTTGGCCGGGTTGCCGGCCGCCGAGAGGACTGCCGCGCCTTCTTGACCTTCACTGTGGACCCCCAGGGCGCCTGCAACCTCGATGATGCCCTCAGTGTCCGAGACCTGGGTCCCAGGTGCGAGGTGGCTGTGCACATCACTGATGTGGCCAGCTTCGTGCCCAGGGACGGGGTGCTGGACGTGGAGGCGCGAAGGCAGGGCGCTGCGTTCTATGCCCCCGGCAGGGAGCCAGTGCCCATGCTGCCGGCCAGCCTCTGCCAGGACGTCCTCAGCCTCCTGCCTGGCCGGGACCGCCTGGCCATCTCCCTGTTCCTCACCATGGAGAAGGCCAGTGGCCAGCTGAAGAGCCTGCGCTTTGCACCCTCCGTGGTCCAGTCTGACCGCCAGCTGTCCTACGAGGAGGCGGAGGAGGTGATCAGGCAGCACCCGGGTGCCGGCCGTGAGCTGCCGGCCCGCCTGGACTCCGTGGACGCCTGCGTCGTGGCCGCGTGCTACTTCTCTCGGCTGCTGCGCCGGCACCGCCTGCGGTCCGACTGCTTCTATGAGCAGCCGGACGAGGACGGCACCCTGGGCTTCCGCGCGGCCCACATCATGGTGAAGGAGTACATGATTCAGTTTAATAGGCTCGTGGCTGAGTTCCTGGTGGGCAGCGAGTGCACGCGGACGGTCACGCCTCTGCGGTGGCAGCCAGCACCCCGCAGCCAGCAGCTCAAGGCCCTGTGTGAGAAGCATGGGGACCGGGTGCCCCTGTCACTGCACCTCGGCCACCACCTGCACGGCGGCGGGGGCAGTCCCCCCGACACGCGGCTGCACCTCCTGGCCTCCCTCTGGAAGCAGGTCCAGTTTGCTGCCCGCACCCAGGACTACGAACAGATGGTGGACTTGGTCACCACGGACGACATGCACCCATTCCTGGCTCCTGCAGGCCGCGACCTCCGCAAGGCCCTGGAGCGCTCGGCGTTCGGCCGCTGCGCCCGGGGCCACCAGCAGCAGGGCGGCCACTACTCGCTGCAGGTGGACTGGTACACGTGGGCCACCTCGCCCATCCGCAGGTACCTGGACGTGGTGTTGCAGCGGCAGATCCTGCTGGCGCTGGGCCATGGGGGCTCTGCCTACTCTGCCAGGGACATCGATGGGCTCTGCCAGGCCTTCAGCCTCCAGCACGCACTTGCCCAGAGCTATCAGCGGCGGGCGCGCAGCCTGCACCTGGCCGTGCAGCTCAAGGCCCAGCCTCTGGACAAGCTGGGCTTCGTGGTGGACGTGGAGGCGGGCTCCCGCTGCTTCCGGCTGCTCTTCCCCAGCAACCGGGAGACGCTGCCTGACCCCTGCCCCGTCCCCTACGGCTCCCTGCAGCTGGCCGAGCACCCCCACGCCCTGGCAGGCCGGCCGGGCCTGCGGCTCCTGTGGCGGCGCCGTGTCTACTCAGCGCAGGGATCCAGCCCGCCCCTGCCACTGCCTGGCACTGTGCCGGACCCACACACCCTGGCCGTGGAGACGGCCCTGTGGAAGCAGCTGCTGGAGCTGGTGGAGCTGCAGCGCTGGCCGGAGGCGGCTGCTCTCATCCAGGAGAAGGGCGAGGCGTCCCAGCGGCGGGAGCTGGTGCAGGTGCAGCGGAGCCACTGTGGCCATTTCCTGGAGGTGGCCCGGGAGCTGGGCAGTGGGGACACCCTGCAGGTGCAGCTCGGCACCAGCCTGCAGCACGGCTTCCTGGTACCGAGCCCTCAGCTCTGGACGGTGGCACCGGGCTTCAGCCTCTGCCTGGAGCACGTGGAGCGGCCCGGAGACTGCTTCTCAGGCCGTGTGTACCGGGCCCCGAGGGACCGGTACCGCGACGTGGATGAGTACGCCTGCGTGTGGGAACCATTCTGCGCCCTGGAGTCGGCCACCGGCGCGGTTGCCGAGAATGACTCCGTCACACTTCAGCACCTGAGTGTCTCCTGGGAGGCGTCACGGACGCCGCAGGGGCAGCTGCAGGGCGCCTTCCGCCTGGAGGCCGCCTTCCTCGAGGAGAACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCGAGGGGCTGCCGGCTCCCACGGCCAGCCCACGCCCTGGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGCCGGGCAGACCGGCAGGAGGCTCCCAGACGGGTGCACCTCTTCGTCCACCACATGGGCATGGAGAAGGTTCCGGAAGAGGTGCTGAGGCCGGGCACCCTGTTCACCGTTGAGCTGCTGCCCAAGCAGCTTCCTGATCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589:ENST00000427522:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.123
Domain overlap (PFAM):
C1:
PF130871=AAA_12=FE(12.2=100)
A:
NA
C2:
PF130871=AAA_12=PD(25.4=4.2),PF0077314=RNB=WD(100=29.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGTCTGTCGGCAGTTTTGA
R:
GCACTCACGGATGAAGCTCTC
Band lengths:
247-393
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains