HsaINT0187548 @ hg38
Intron Retention
Gene
ENSG00000183647 | ZNF530
Description
zinc finger protein 530 [Source:HGNC Symbol;Acc:HGNC:29297]
Coordinates
chr19:57604277-57608267:+
Coord C1 exon
chr19:57604277-57604406
Coord A exon
chr19:57604407-57605685
Coord C2 exon
chr19:57605686-57608267
Length
1279 bp
Sequences
Splice sites
5' ss Seq
TAGGTAAGG
5' ss Score
9.31
3' ss Seq
CAGCATTTCTCTTCTTTCAGGTT
3' ss Score
9.7
Exon sequences
Seq C1 exon
CAGGTTTTTGTAGCCTTTGAGGATGTGGCCATTTACTTCTCCCAGGAGGAGTGGGAGCTCCTTGATGAGATGCAGAGGCTCCTGTACCGCGATGTGATGCTGGAGAACTTTGCAGTTATGGCATCCCTAG
Seq A exon
GTAAGGCCCTCCTATTCCTCCCAGTTTCCTTTGTGGGTCTCTCCTTTTCCCCTGTCCCTGAGGCAGCTCTGTCCTTTCTTCAGTTAGACCCTGAGCTCTACAGACCTTCCCACTTTCTTGGCATATGTATTCTGAGGGACATCGCCAAGCAAGGCACTCTCAGACTGTCCTAACACCTGTTTCCTCTAGGTATGCAGTGAAGGGTCTGGGAGACAGGATCTTTCTTTCAACCTAAAGGATTTGTCCTTGCCTTCTCCATGACAGGATGGCTTTCTCCAGTTCTAGGATGCTCTTTGTTCCATGTTCTGCCTTTTGCTTCTAACTAAAATCTCAAGCTGCCTGTTTCAGGAATTGCAGGTATCATCATGTTAACTACTTAACTGGTCCATAGGCTTTTCATAAAGATCCACCTGAAAGATTTTCTTGTAACATTATTTTTCACTGCTGTAGTTTGTCATGTGCTGAGTTGCTCTGTGCCAGTGCTGGCTGTGCACCTCTCTGGTCTTCCCTTTAGGGCATACATCTTATAGGTCTGGTATAGTTGCACAACTGGGATTCGAGGATGGCTCTGGTTGCTTTACAGGGTGCAAACAGCAAGATAGTCTCAGAGGAGGCCTGGCCCTAATGAGTGACAACTAAGGGAGGGCAAGACACTAGGGCTGTTTCTAATCACACCATAAACCTGTCCTGAGTTCTCAGTGATTGGGTGCTGATTCCATAGGACATATATCATTTCTCTCTTTTTTTTCTTTTCTACACATGTTCTGATTTTTATTTCATCCATGACTTCCAGCCCTTAGCTGCTACCAATTTCTGGCCTCCATGTGTCACCTGTTCCTTTCCAGTGCAACTTCTAGAGTGTTCTCTAACACTGACCCACATGTAATATGTTGTCAGATGTGCACATGTTTTTAAATAGTCCTTCCACACCTAGTATTCAGTTCCCATGGGTGTCTACTGGGCCTGGACACCAATAATCTTCTGTGCAGTGTACCGAAGTCCTCTCTTCTCATCAGGGGAGGAAGTCCTGATAAAAGCTTTTGGCAGAATAGTGAGTCAGAGACCCTACCTGTTCTCTCTGAGTTGTGCCCCATCTTTGTGTCTTTCATCTCATAAGGCCTCCCTTGTTCTGTGACTTGTAGAGGCTTTTTTCCACAAATTTCCACCAGCTCTCATATCCTAAAAACATTTTCTTAGACTCATTCTTTGACACACATTTTTGATGTAACTTCTCACACCATAGTAAATCTGTGTTTTCTCAGCATTTCTCTTCTTTCAG
Seq C2 exon
GTTGCTGGTGTGGAGCAGTAGATGAGGGGACGCCTTCTGCAGAGAGCGTTTCTGTGGAAGAACTGTCACAGGGCAGGACTCCAAAGGCAGATACATCCACTGATAAGAGTCACCCCTGTGAGATTTGTACCCCAGTCCTGAGAGACATTTTACAAATGATTGAGCTCCATGCCTCACCCTGTGGACAGAAATTGTACTTGGGTGGAGCATCAAGAGATTTCTGGATGAGTTCAAACCTTCACCAGCTCCAGAAGCTTGATAATGGAGAGAAGCTCTTTAAAGTGGATGGGGACCAGGCCTCATTTATGATGAACTGCAGGTTCCATGTGTCAGGAAAACCCTTCACGTTTGGGGAAGTCGGGAGGGACTTTTCAGCCACCTCAGGACTTCTCCAGCATCAGGTGACTCCCACCATTGAGAGACCACACAGCAGGATTAGACACTTGAGAGTTCCCACTGGACGAAAGCCTCTCAAATACACTGAATCCAGGAAATCTTTTAGAGAGAAATCTGTATTCATTCAACACCAAAGAGCTGACTCTGGAGAAAGGCCTTACAAGTGCAGTGAATGTGGGAAATCCTTTAGTCAAAGTTCTGGCTTTCTTCGACACAGGAAAGCACACGGTAGAACAAGGACTCATGAATGTAGTGAATGTGGGAAATCATTTAGTCGCAAAACTCACCTAACTCAACACCAAAGAGTTCACACTGGAGAAAGGCCTTATGACTGCAGTGAATGTGGCAAATCCTTTCGCCAGGTATCTGTCCTCATTCAACATCAACGAGTTCACACTGGAGAAAGGCCTTATGAGTGCAGTGAATGTGGGAAATCTTTTAGCCACAGCACTAACCTCTATCGTCACAGGAGTGCCCACACTAGCACAAGGCCTTATGAGTGCAGTGAATGTGGAAAATCCTTTAGCCATAGCACTAACCTCTTTCGACACTGGAGAGTTCACACTGGAGTAAGGCCTTATGAGTGTAGTGAATGTGGGAAAGCATTTAGTTGCAATATCTACCTTATTCACCACCAAAGATTTCACACTGGAGAAAGACCTTATGTGTGCAGTGAATGTGGGAAATCATTTGGCCAGAAATCTGTCCTCATTCAACACCAAAGAGTTCACACTGGAGAAAGGCCTTATGAGTGCAGTGAATGTGGGAAAGTTTTTAGCCAAAGCTCTGGCCTCTTTCGACACAGAAGAGCTCACACTAAAACAAAGCCTTATGAGTGCAGTGAATGTGAAAAATCATTTAGTTGCAAAACTGACCTCATTCGACACCAGACAGTTCACACTGGAGAAAGGCCTTATGAGTGCAGTGTATGTGGGAAATCTTTTATCCGAAAAACCCACCTCATTCGACACCAGACTGTTCACACTAATGAAAGGCCTTATGAGTGCGATGAATGTGGGAAATCCTATAGCCAAAGCTCTGCCCTCCTTCAGCATAGGAGAGTTCACACTGGAGAAAGGCCTTATGAGTGCAGAGAATGTGGGAAATCTTTTACCCGCAAAAATCACCTCATTCAACACAAGACAGTTCACACTGGAGAAAGGCCTTATGAATGCAGTGAATGTGGAAAATCCTTTAGCCAAAGCTCTGGCCTCTTAAGACACAGAAGAGTTCATGTGCAGTGAATGTGGGAAATTATTTTGTCACTTTTTTTTTTTTTTTTGAGATGGAATTTTGCTCGTCACCCAGGCTGGAGTGCAATTGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGATCAAGTGATTCTCCTGCCACAGCCTCCTGAGTACCTGAGATTACAGGCACCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAAACAAGGTTTCACCATGTTGGTCAGGCTGGTGTTGAACTCCTGACCTCAGGTAATCCACCTGCTTCAGCCTACCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGTCCGGCTTGTGTTGTGACATTTAACACAAGATTTCCCAAAGAAGAAAGGCCTTATATATGCTGTGAATGTGTTTTTGCTTGTTAGTTTGTTTTAACTTGGTATGACGGCACTGGAGGCTAGCCTTTGAGAAGAGCCTTCTCTGATGTGACTCATGTATCCAAACATCCATGGATTTCCCATAAATTTGAGGTATGTGGGAAGCATGTGTAGCTATGTTGTACTCTCTAAACCTGCCCAGGGACCTTACCAGATTCGTGTCACTGCCAGTTTCTGCGGCTGAAGCCTTTTCATCACTACCCGCTGGGAGACCCACAGAGTGTGCATCAGTCACCACCCCAACATGCTCAGGGAGGCAGAGTTCTTCCATTAGTTGGAGGAAAGCACGAGTAGTCTAAGCTCTTAGGGGGGTTTCTCATTTCCTCCTGTGGCTACATAGTGCATATAACTACCCCAGTGTTGGCCCCAGGACCTGATCTGAGTTCTGCTGGCAGCTTCCAGAGGATTGCCTTTTTTGAGGACATTGTTGATCTCAGGCGATGCTTGTGATGAAGCATTTTTTAGCTTCCACCACTTACCAGGAACTGCCTGTTAACTGGCTTGTGCAATGATAAAGGCCTTTTGTTTAAGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183647:ENST00000332854:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.184
Domain overlap (PFAM):
C1:
PF0135222=KRAB=WD(100=100.0)
A:
NA
C2:
PF0135222=KRAB=PD(0.1=0.0),PF0009621=zf-C2H2=WD(100=4.2),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCTGTACCGCGATGTGATG
R:
TAAATGAGGCCTGGTCCCCAT
Band lengths:
358-1637
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains