CFAP61-AS1 (CFAP61 antisense RNA 1) - Rat Genome Database

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Gene: CFAP61-AS1 (CFAP61 antisense RNA 1) Homo sapiens
Analyze
Symbol: CFAP61-AS1
Name: CFAP61 antisense RNA 1
RGD ID: 14700628
HGNC Page HGNC:40731
Description: ASSOCIATED WITH genetic disease
Type: ncrna
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382020,254,550 - 20,267,837 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372020,235,474 - 20,239,036 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map20p11.23NCBI
HuRef2020,197,075 - 20,200,635 (-)NCBIHuRef
CHM1_12020,236,374 - 20,239,934 (-)NCBICHM1_1
T2T-CHM13v2.02020,308,829 - 20,322,118 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Genomics

Variants

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Variants in CFAP61-AS1
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1
pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21
pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12
pathogenic
GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1 copy number loss See cases [RCV000135439] Chr20:17772771..21426789 [GRCh38]
Chr20:17753416..21407427 [GRCh37]
Chr20:17701416..21355427 [NCBI36]
Chr20:20p12.1-11.22
pathogenic
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1
pathogenic
NM_015585.4(CFAP61):c.2402G>C (p.Arg801Pro) single nucleotide variant Inborn genetic diseases [RCV002840187] Chr20:20263029 [GRCh38]
Chr20:20243673 [GRCh37]
Chr20:20p11.23
uncertain significance
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21
pathogenic
NM_015585.4(CFAP61):c.2468T>G (p.Leu823Arg) single nucleotide variant Inborn genetic diseases [RCV003371515] Chr20:20263095 [GRCh38]
Chr20:20243739 [GRCh37]
Chr20:20p11.23
uncertain significance

Expression


Sequence


RefSeq Acc Id: NR_183978
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382020,254,550 - 20,267,837 (-)NCBI
T2T-CHM13v2.02020,308,829 - 20,322,118 (-)NCBI
RefSeq Acc Id: NR_183979
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382020,254,550 - 20,267,837 (-)NCBI
T2T-CHM13v2.02020,308,829 - 20,322,118 (-)NCBI

Additional Information

Database Acc Id Source(s)
COSMIC CFAP61-AS1 COSMIC
GTEx CFAP61-AS1 GTEx
HGNC ID HGNC:40731 ENTREZGENE
Human Proteome Map CFAP61-AS1 Human Proteome Map
NCBI Gene CFAP61-AS1 ENTREZGENE
RNAcentral URS00026A20B2 RNACentral
  URS00026A2895 RNACentral