HsaINT0131702 @ hg38
Intron Retention
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63562288-63566231:-
Coord C1 exon
chr20:63562520-63566231
Coord A exon
chr20:63562383-63562519
Coord C2 exon
chr20:63562288-63562382
Length
137 bp
Sequences
Splice sites
5' ss Seq
TCTGTGAGT
5' ss Score
7
3' ss Seq
GTGTCTGCCTTCACCCCCAGCCG
3' ss Score
9.2
Exon sequences
Seq C1 exon
GGCGGCAGTTCCGGGTCGTGGTGCTCAGCACTGTGCACACCTGCCAGAGCCTGCTCAGCCCTGGGGCACTGGCCCCTGAGTTCTTCACCGACGCCCGCGTGCTCAACACCGTCCTGACCCGCGCCCAGTCCCAGCTGGTGGTAGTGGGGGACGCCGTGGCCCTCTGCTCCTTCGGGGCCTGCGGCAAGCTCTGGGAGAGCTTCATCCGTGAGTGCGTGGAGCGGCACAGTGTCTGCCCCGAGGGCCTGTCCATGGAGCAGGTCGAGCAGGGTGTGGCGCAGAGACGGCGCTGGCCTCCCCGAGGCACACAGGCTGGGGCAGCGGGGAACTGGGAGGCTGCCCCAGAGCCAGTAGGGGACCTGGCCGAGGAGCAGGCGGCTGTGGTGACGGCCATGGTGAAGGCAGAGCCGGGAGATGAGGCTCTGAGCCCAGCATCCCGTGACATCACGGCAACCACAGCGCAGACGGAGGCTGCGGCAGCACCAGCAGGAGACGCAGTGAAGGAAGACGTGGTGCCCGGGGCCTGTGCGGCAGGAGCGGCTGCTGCAGCGGGCGTGGAGTCCACGGAGGCTGAGGATGCAGAGGCTGACTTCTGGCCGTGGGACGGGGAGCTCAACGCTGACGACGCCATCCTACGGGAGCTTCTGGACGAGAGCCAGAAGGTGATGGTGACCGTCGGGGAGGACGGGCTGCTGGACACTGTCGCCAGGCCCGAGTCCCTGCAGCAGGCCCGGCTGTACGAGAACCTGCCCCCGGCTGCGCTACGGAAGCTGCTGCACGCGGAGCCCGAGCGGTACCGCCACTGCTCTTTCGTGCCAGAGACCTTCGAGCGGGCGTCAGCCATCCCGCTGGACGATGCCTCCTCGGGCCCCATCCAGGTCAGGGGCCGCCTGGACTGTGGGATGGCCTTCGCCGGGGATGAGGTGCTGGTGCAGCTCCTTTCGGGAGACAAGGCGCCCGAGGGGCGGCTTCGGGGCCGCGTGCTGGGCGTGCTGAAGAGGAAGAGGCACGAGCTGGCGTTTGTGTGCCGCATGGACACGTGGGACCCGCGCATCATGGTCCCCATCAATGGCTCCGTGACCAAGATCTTCGTGGCCGAGCTGAAGGACCCATCGCAGGTCCCCATCTACAGCCTCCGGAAGGGCCGGCTGCAGCGTGTGGGGCTTGAGAGGCTCACCGCCGAGGCCCGGCACAGCCGGCTCTTCTGGGTCCAAATTGTCCTGTGGCGGCAAGGCTTCTACTACCCGCTGGGCATCGTCCGGGAGGTGCTGCCTGAGGCCAGCACCTGGGAGCAGGGCCTCCGCATCCTCGGCCTGGAGTACAGCTTGAGGGTGCCCCCGTCGGACCAGGCCACCATCACCAAGGTGCTGCAGAAATACCACACGGAGCTTGGCCGGGTTGCCGGCCGCCGAGAGGACTGCCGCGCCTTCTTGACCTTCACTGTGGACCCCCAGGGCGCCTGCAACCTCGATGATGCCCTCAGTGTCCGAGACCTGGGTCCCAGGTGCGAGGTGGCTGTGCACATCACTGATGTGGCCAGCTTCGTGCCCAGGGACGGGGTGCTGGACGTGGAGGCGCGAAGGCAGGGCGCTGCGTTCTATGCCCCCGGCAGGGAGCCAGTGCCCATGCTGCCGGCCAGCCTCTGCCAGGACGTCCTCAGCCTCCTGCCTGGCCGGGACCGCCTGGCCATCTCCCTGTTCCTCACCATGGAGAAGGCCAGTGGCCAGCTGAAGAGCCTGCGCTTTGCACCCTCCGTGGTCCAGTCTGACCGCCAGCTGTCCTACGAGGAGGCGGAGGAGGTGATCAGGCAGCACCCGGGTGCCGGCCGTGAGCTGCCGGCCCGCCTGGACTCCGTGGACGCCTGCGTCGTGGCCGCGTGCTACTTCTCTCGGCTGCTGCGCCGGCACCGCCTGCGGTCCGACTGCTTCTATGAGCAGCCGGACGAGGACGGCACCCTGGGCTTCCGCGCGGCCCACATCATGGTGAAGGAGTACATGATTCAGTTTAATAGGCTCGTGGCTGAGTTCCTGGTGGGCAGCGAGTGCACGCGGACGGTCACGCCTCTGCGGTGGCAGCCAGCACCCCGCAGCCAGCAGCTCAAGGCCCTGTGTGAGAAGCATGGGGACCGGGTGCCCCTGTCACTGCACCTCGGCCACCACCTGCACGGCGGCGGGGGCAGTCCCCCCGACACGCGGCTGCACCTCCTGGCCTCCCTCTGGAAGCAGGTCCAGTTTGCTGCCCGCACCCAGGACTACGAACAGATGGTGGACTTGGTCACCACGGACGACATGCACCCATTCCTGGCTCCTGCAGGCCGCGACCTCCGCAAGGCCCTGGAGCGCTCGGCGTTCGGCCGCTGCGCCCGGGGCCACCAGCAGCAGGGCGGCCACTACTCGCTGCAGGTGGACTGGTACACGTGGGCCACCTCGCCCATCCGCAGGTACCTGGACGTGGTGTTGCAGCGGCAGATCCTGCTGGCGCTGGGCCATGGGGGCTCTGCCTACTCTGCCAGGGACATCGATGGGCTCTGCCAGGCCTTCAGCCTCCAGCACGCACTTGCCCAGAGCTATCAGCGGCGGGCGCGCAGCCTGCACCTGGCCGTGCAGCTCAAGGCCCAGCCTCTGGACAAGCTGGGCTTCGTGGTGGACGTGGAGGCGGGCTCCCGCTGCTTCCGGCTGCTCTTCCCCAGCAACCGGGAGACGCTGCCTGACCCCTGCCCCGTCCCCTACGGCTCCCTGCAGCTGGCCGAGCACCCCCACGCCCTGGCAGGCCGGCCGGGCCTGCGGCTCCTGTGGCGGCGCCGTGTCTACTCAGCGCAGGGATCCAGCCCGCCCCTGCCACTGCCTGGCACTGTGCCGGACCCACACACCCTGGCCGTGGAGACGGCCCTGTGGAAGCAGCTGCTGGAGCTGGTGGAGCTGCAGCGCTGGCCGGAGGCGGCTGCTCTCATCCAGGAGAAGGGCGAGGCGTCCCAGCGGCGGGAGCTGGTGCAGGTGCAGCGGAGCCACTGTGGCCATTTCCTGGAGGTGGCCCGGGAGCTGGGCAGTGGGGACACCCTGCAGGTGCAGCTCGGCACCAGCCTGCAGCACGGCTTCCTGGTACCGAGCCCTCAGCTCTGGACGGTGGCACCGGGCTTCAGCCTCTGCCTGGAGCACGTGGAGCGGCCCGGAGACTGCTTCTCAGGCCGTGTGTACCGGGCCCCGAGGGACCGGTACCGCGACGTGGATGAGTACGCCTGCGTGTGGGAACCATTCTGCGCCCTGGAGTCGGCCACCGGCGCGGTTGCCGAGAATGACTCCGTCACACTTCAGCACCTGAGTGTCTCCTGGGAGGCGTCACGGACGCCGCAGGGGCAGCTGCAGGGCGCCTTCCGCCTGGAGGCCGCCTTCCTCGAGGAGAACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCGAGGGGCTGCCGGCTCCCACGGCCAGCCCACGCCCTGGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGCCGGGCAGACCGGCAGGAGGCTCCCAGACGGGTGCACCTCTTCGTCCACCACATGGGCATGGAGAAGGTTCCGGAAGAGGTGCTGAGGCCGGGCACCCTGTTCACCGTTGAGCTGCTGCCCAAGCAGCTTCCTGATCT
Seq A exon
GTGAGTGGCTTCCACCAGCAGAGGCTGGGCTGGGGGACCGCCCCGGGCCCCTCACTTGCAGGAGGGGGGAGCTCGTGGGGCAGCAGCCCCTTTCCTGGGAGTCCTGTTGGTTTTCCAGTGTCTGCCTTCACCCCCAG
Seq C2 exon
CCGCAAGGAGGAAGCCGTGCGTGGACTAGAGGAGGCGTCCCCGCTGGTCACCAGCATCGCACTGGGCCGGCCTGTCCCGCAGCCCCTCTGCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589:ENST00000427522:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.123 A=NA C2=0.182
Domain overlap (PFAM):
C1:
PF130871=AAA_12=PD(25.4=4.2),PF0077314=RNB=WD(100=29.1)
A:
NA
C2:
NO
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:
CTGGCCTGAATGTTGACCCC
R:
GACGCCTCCTCTAGTCCACG
Band lengths:
250-387
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains