HsaINT1047593 @ hg38
Intron Retention
Gene
ENSG00000221994 | ZNF630
Description
zinc finger protein 630 [Source:HGNC Symbol;Acc:HGNC:28855]
Coordinates
chrX:48058214-48060545:-
Coord C1 exon
chrX:48060450-48060545
Coord A exon
chrX:48060204-48060449
Coord C2 exon
chrX:48058214-48060203
Length
246 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
3' ss Seq
CCTCTTTCTTCTTCCTTCAGACA
3' ss Score
10.65
Exon sequences
Seq C1 exon
GGTGTTCAGGTATAAAACCAGATGTAATCTTTAAGTTGGAACATGGAAAGGACCCATGGATCATAGAGAGTGAGTTGTCAAGGTGGATCTACCCAG
Seq A exon
GTAAGTGAGAATTGGGTACATGGTCAAGCGGGCATCTTCTTCTTCCTTGACATCTCTGACATCCGTTACCTTTTTTCTTCCTTAAAATTTATCAGGCCTCCTTTATAACATTCATTCTACAACAGCCACCTTCCTAGTACCTCTGTTCATTGCCAACTGTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTGATTTTCCCTCTTTCTTCTTCCTTCAG
Seq C2 exon
ACAGAGTGAAAGGCCTTGAATCTTCCCAGCAGATCATTTCTGGAGAACTTTTATTTCAAAGGGAGATACTAGAAAGAGCCCCAAAGGATAATTCATTGTACTCTGTTTTAAAAATCTGGCATATTGATAATCAGATGGATAGATATCAAGGAAATCAAGACAGAGTTTTGAGGCAGGTCACAGTCATCAGTCGTGAAACATTGACTGATGAGATGGGTTCCAAGTACAGTGCATTTGGGAAAATGTTCAATCGGTGCACAGACCTTGCTCCTTTAAGTCAAAAATTCCATAAGTTTGATTCATGTGAAAATAGCTTGAAGTCTAATTCAGACTTACTAAATTATAACAGGAGCTATGCAAGAAAGAACCCCACTAAGAGATTTAGATGTGGGAGACCACCTAAGTATAATGCTTCCTGTTCTGTGCCTGAGAAGGAAGGCTTCATTCATACTGGAATGGAGCCCTATGGAGATAGTCAATGTGAAAAAGTTCTCAGTCATAAGCAAGCCCATGTTCAGTATAAGAAATTTCAAGCCAGAGAGAAACCCAATGTTTGTAGTATGTGTGGGAAAGCCTTTATCAAGAAGTCACAGCTCATTATACATCAAAGAATTCATACTGGAGAGAAACCATATGTATGTGGAGATTGTAGGAAAGCCTTCAGTGAGAAATCACACCTCATTGTGCATCAGAGGATTCATACTGGGGAGAAACCCTATGAATGTACTAAGTATGGAAGAGCATTCTCCCGGAAGTCACCTTTCACTGTTCATCAGAGAGTCCATACTGGAGAGAAACCCTATGAGTGTTTTGAGTGTCCAAAAGCTTTCTCCCAGAAGTCACATCTAATTATACATCAGAGAGTTCATACCAGAGAGAAGCCCTTTGAATGCAGTGAATGCAGGAAAGCCTTCTGTGAGATGTCTCACCTTTTTATACACCAGATAACTCATACTGGGAAGAAGCCCTATGAATGTACTGAATGTGGGAAGACCTTCCCTCGGAAAACACAGCTCATTATACATCAGAGAACGCATACTGGAGAGAAGCCCTATAAGTGTGGTGAATGTGGGAAAACTTTCTGCCAACAGTCCCACCTCATAGGACATCAAAGAATTCATACAGGAGAAAAACCTTATGTGTGTACTGACTGTGGGAAGGCCTTTTCCCAGAAGTCACACCTCACTGGCCATCAAAGACTTCATACTGGAGAGAAACCTTATATGTGTACTGAATGTGGAAAATCCTTCTCTCAGAAATCACCTCTTATCATACACCAGAGAATTCATACAGGGGAGAAACCTTATCAGTGTGGTGAATGTGGCAAAACCTTCTCCCAGAAATCACTCCTCATTATTCATCTGAGAGTTCACACAGGGGAGAAACCTTATGAGTGTACTGAGTGTGGGAGGGCCTTTTCCCTGAAGTCACATCTCATTCTACATCAGAGAGGTCATACTGGAGAGAAACCCTATGAATGTAGTGAATGTGGAAAGGCCTTCTGTGGAAAGTCTCCACTCATTATACATCAGAAAACTCATCCTAGGGAGAAAACCCCTGAATGTGCTGAGTCTGGAATGACTTTTTTCTGGAAATCACAGATGATTACATATCAGAGAAGACACACTGGGGAGAAACCCTCCAGATGCAGTGACTGTGGGAAGGCATTCTGCCAGCATGTATACTTTACTGGGCATCAGAATCCATATAGGAAAGACACCTTGTATATATGCTGATTGTGGGAAGGCCTATTCCCAGAAGTCAGTCCTCATTGTCTATGGGAAAACTCACATTGAATAGAAATAGTGACAACTTCTCAACTGTAGAATAGACTAATATGTTCCTCAGTATACATGATTACCCTTCCACAGAATGATCTGCTTAGGCCCTCAGAATATTTTCAACATCACAAATATGGAATCAATTTGCTCACCCTCAAACTGTCTCAGCCCTCTTCACAGAATAAATGTATCTGGAAGAATTAGCACTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000221994:ENST00000409324:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.019
Domain overlap (PFAM):
C1:
PF0135222=KRAB=PD(0.1=0.0)
A:
NA
C2:
PF102174=DUF2039=WD(100=14.0),PF134651=zf-H2C2_2=WD(100=4.9),PF134651=zf-H2C2_2=WD(100=4.9),PF134651=zf-H2C2_2=WD(100=4.7),PF134651=zf-H2C2_2=WD(100=4.5),PF134651=zf-H2C2_2=WD(100=4.9),PF134651=zf-H2C2_2=WD(100=4.5),PF134651=zf-H2C2_2=WD(100=4.9),PF134651=zf-H2C2_2=WD(100=4.9),PF134651=zf-H2C2_2=WD(100=4.7),PF134651=zf-H2C2_2=WD(100=4.5),PF134651=zf-H2C2_2=WD(100=4.9),PF134651=zf-H2C2_2=WD(100=3.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTTGTCAAGGTGGATCTACCCA
R:
AAAGGAGCAAGGTCTGTGCAC
Band lengths:
298-544
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains