ZFPM2-AS1 (ZFPM2 antisense RNA 1) - Rat Genome Database

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Gene: ZFPM2-AS1 (ZFPM2 antisense RNA 1) Homo sapiens
Analyze
Symbol: ZFPM2-AS1
Name: ZFPM2 antisense RNA 1
RGD ID: 9068537
HGNC Page HGNC
Description: ASSOCIATED WITH 46,XY sex reversal 3; 46,XY sex reversal 9; Diaphragmatic Hernia 3; INTERACTS WITH methylparaben
Type: ncrna
RefSeq Status: VALIDATED
Also known as: SCAT3
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8105,546,089 - 106,060,524 (-)EnsemblGRCh38hg38GRCh38
GRCh388105,780,410 - 106,060,503 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378106,792,638 - 107,072,731 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map8q23.1NCBI
HuRef8102,118,773 - 102,122,234 (-)NCBIHuRef
CHM1_18106,833,130 - 107,112,888 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:29491376   PMID:29985481   PMID:31297866   PMID:32065218   PMID:32744687   PMID:32795316   PMID:33300060  


Genomics

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:870
Count of miRNA genes:603
Interacting mature miRNAs:663
Transcripts:ENST00000509144, ENST00000518932, ENST00000520078, ENST00000520433, ENST00000520594, ENST00000521622, ENST00000524045
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 20 32 27 8 29 69 18 27 46 48 80 5 5
Low 361 537 336 82 87 83 1260 157 783 273 656 388 6 737 811 3 1
Below cutoff 1940 1709 1292 423 607 327 2754 1966 2740 98 677 1080 99 467 1854 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000509144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,796,940 - 106,060,443 (-)Ensembl
RefSeq Acc Id: ENST00000518932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,785,055 - 105,911,869 (-)Ensembl
RefSeq Acc Id: ENST00000520078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,798,091 - 106,060,461 (-)Ensembl
RefSeq Acc Id: ENST00000520433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,780,246 - 106,060,524 (-)Ensembl
RefSeq Acc Id: ENST00000520594
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,785,004 - 106,060,467 (-)Ensembl
RefSeq Acc Id: ENST00000521622
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,798,327 - 106,060,491 (-)Ensembl
RefSeq Acc Id: ENST00000524045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,784,805 - 106,060,477 (-)Ensembl
RefSeq Acc Id: ENST00000647695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,546,089 - 105,798,409 (-)Ensembl
RefSeq Acc Id: ENST00000659633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,785,171 - 105,927,718 (-)Ensembl
RefSeq Acc Id: NR_125796
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388105,780,410 - 106,060,503 (-)NCBI
CHM1_18106,833,130 - 107,112,888 (-)NCBI
Sequence:
RefSeq Acc Id: NR_125797
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388105,780,410 - 106,060,503 (-)NCBI
CHM1_18106,833,130 - 107,112,888 (-)NCBI
Sequence:

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012082.4(ZFPM2):c.3078G>A (p.Ala1026=) single nucleotide variant 46,XY sex reversal 9 [RCV000546178] Chr8:105803160 [GRCh38]
Chr8:106815388 [GRCh37]
Chr8:8q23.1
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1 copy number loss See cases [RCV000136812] Chr8:101199826..105802098 [GRCh38]
Chr8:102212054..106814326 [GRCh37]
Chr8:102281230..106883502 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q23.1(chr8:105380252-106481199)x3 copy number gain See cases [RCV000137805] Chr8:105380252..106481199 [GRCh38]
Chr8:106392480..107493427 [GRCh37]
Chr8:106461656..107562603 [NCBI36]
Chr8:8q23.1
pathogenic|likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q23.1(chr8:105374298-106481199)x3 copy number gain See cases [RCV000138266] Chr8:105374298..106481199 [GRCh38]
Chr8:106386526..107493427 [GRCh37]
Chr8:106455702..107562603 [NCBI36]
Chr8:8q23.1
uncertain significance
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:105081855-105886355)x3 copy number gain See cases [RCV000142128] Chr8:105081855..105886355 [GRCh38]
Chr8:106094083..106898583 [GRCh37]
Chr8:106163259..106967759 [NCBI36]
Chr8:8q22.3-23.1
uncertain significance
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:105053530-107803535)x1 copy number loss See cases [RCV000051020] Chr8:105053530..107803535 [GRCh38]
Chr8:106065758..108815763 [GRCh37]
Chr8:106134934..108884939 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg) single nucleotide variant 46,XY sex reversal 9 [RCV000144724] Chr8:105801288 [GRCh38]
Chr8:106813516 [GRCh37]
Chr8:8q23.1
pathogenic
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln) single nucleotide variant 46,XY sex reversal 9 [RCV000144725] Chr8:105798763 [GRCh38]
Chr8:106810991 [GRCh37]
Chr8:8q23.1
pathogenic|not provided
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) single nucleotide variant 46,XY sex reversal 9 [RCV000467901]|Tetralogy of Fallot [RCV000006501] Chr8:105802051 [GRCh38]
Chr8:106814279 [GRCh37]
Chr8:8q23.1
pathogenic|benign
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) single nucleotide variant 46,XY sex reversal 9 [RCV000861889]|46,XY sex reversal, type 3 [RCV001007705]|Diaphragmatic hernia 3 [RCV000006504]|Double outlet right ventricle [RCV000032715] Chr8:105802189 [GRCh38]
Chr8:106814417 [GRCh37]
Chr8:8q23.1
pathogenic|benign|conflicting interpretations of pathogenicity
NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala) single nucleotide variant Diaphragmatic hernia 3 [RCV000006505] Chr8:105802609 [GRCh38]
Chr8:106814837 [GRCh37]
Chr8:8q23.1
pathogenic
NM_012082.4(ZFPM2):c.681T>G (p.Ile227Met) single nucleotide variant Double outlet right ventricle [RCV000032714] Chr8:105788866 [GRCh38]
Chr8:106801094 [GRCh37]
Chr8:8q23.1
pathogenic
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) single nucleotide variant 46,XY sex reversal 9 [RCV000144723]|46,XY sex reversal, type 3 [RCV001007702]|Tetralogy of Fallot [RCV000032716]|not provided [RCV000514546]|not specified [RCV000455350] Chr8:105801714 [GRCh38]
Chr8:106813942 [GRCh37]
Chr8:8q23.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012082.4(ZFPM2):c.2209A>G (p.Lys737Glu) single nucleotide variant Double outlet right ventricle [RCV000032717] Chr8:105802291 [GRCh38]
Chr8:106814519 [GRCh37]
Chr8:8q23.1
pathogenic
NM_012082.3(ZFPM2):c.1113C>T (p.Gly371=) single nucleotide variant Malignant melanoma [RCV000068075] Chr8:105801195 [GRCh38]
Chr8:106813423 [GRCh37]
Chr8:106882599 [NCBI36]
Chr8:8q23.1
not provided
NM_012082.3(ZFPM2):c.2168C>T (p.Ser723Phe) single nucleotide variant Malignant melanoma [RCV000068076] Chr8:105802250 [GRCh38]
Chr8:106814478 [GRCh37]
Chr8:106883654 [NCBI36]
Chr8:8q23.1
not provided
NM_012082.3(ZFPM2):c.3054G>A (p.Gln1018=) single nucleotide variant Malignant melanoma [RCV000068077] Chr8:105803136 [GRCh38]
Chr8:106815364 [GRCh37]
Chr8:106884540 [NCBI36]
Chr8:8q23.1
not provided
NR_125796.1(ZFPM2-AS1):n.179+54493T>C single nucleotide variant Lung cancer [RCV000106770] Chr8:106004588 [GRCh38]
Chr8:107016816 [GRCh37]
Chr8:8q23.1
uncertain significance
NR_125796.1(ZFPM2-AS1):n.179+5795G>A single nucleotide variant Lung cancer [RCV000106771] Chr8:106053286 [GRCh38]
Chr8:107065514 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro) single nucleotide variant 46,XY sex reversal 9 [RCV000233426] Chr8:105802178 [GRCh38]
Chr8:106814406 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu) single nucleotide variant 46,XY sex reversal 9 [RCV000227236] Chr8:105802747 [GRCh38]
Chr8:106814975 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=) single nucleotide variant 46,XY sex reversal 9 [RCV000475888]|not specified [RCV000243857] Chr8:105801858 [GRCh38]
Chr8:106814086 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2385C>G (p.Val795=) single nucleotide variant 46,XY sex reversal 9 [RCV000470649]|not specified [RCV000244154] Chr8:105802467 [GRCh38]
Chr8:106814695 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=) single nucleotide variant 46,XY sex reversal 9 [RCV000462912]|not specified [RCV000249120] Chr8:105803058 [GRCh38]
Chr8:106815286 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.3207C>T (p.His1069=) single nucleotide variant not specified [RCV000244414] Chr8:105803289 [GRCh38]
Chr8:106815517 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) single nucleotide variant not specified [RCV000246895] Chr8:105801290 [GRCh38]
Chr8:106813518 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr) single nucleotide variant 46,XY sex reversal 9 [RCV000559499]|46,XY sex reversal, type 3 [RCV001007700]|not specified [RCV000249373] Chr8:105788814 [GRCh38]
Chr8:106801042 [GRCh37]
Chr8:8q23.1
benign|likely benign
NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=) single nucleotide variant not specified [RCV000251859] Chr8:105801444 [GRCh38]
Chr8:106813672 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1851G>A (p.Glu617=) single nucleotide variant not specified [RCV000247198] Chr8:105801933 [GRCh38]
Chr8:106814161 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) single nucleotide variant not specified [RCV000252167] Chr8:105802428 [GRCh38]
Chr8:106814656 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1632G>T (p.Met544Ile) single nucleotide variant not provided [RCV000520007] Chr8:105801714 [GRCh38]
Chr8:106813942 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1400dup (p.Tyr467Ter) duplication not provided [RCV000598673] Chr8:105801481..105801482 [GRCh38]
Chr8:106813709..106813710 [GRCh37]
Chr8:8q23.1
likely pathogenic
NM_012082.4(ZFPM2):c.1366A>T (p.Ile456Leu) single nucleotide variant not provided [RCV000596322] Chr8:105801448 [GRCh38]
Chr8:106813676 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser) single nucleotide variant 46,XY sex reversal 9 [RCV000533424] Chr8:105802228 [GRCh38]
Chr8:106814456 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1520T>C (p.Ile507Thr) single nucleotide variant not provided [RCV000522745] Chr8:105801602 [GRCh38]
Chr8:106813830 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.822T>C (p.Ser274=) single nucleotide variant 46,XY sex reversal 9 [RCV000471512] Chr8:105798806 [GRCh38]
Chr8:106811034 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val) single nucleotide variant 46,XY sex reversal 9 [RCV000464502] Chr8:105803246 [GRCh38]
Chr8:106815474 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1164C>T (p.Ser388=) single nucleotide variant not provided [RCV000457719] Chr8:105801246 [GRCh38]
Chr8:106813474 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) single nucleotide variant 46,XY sex reversal 9 [RCV000476456] Chr8:105802369 [GRCh38]
Chr8:106814597 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.965-9TC[2] microsatellite 46,XY sex reversal 9 [RCV000462010] Chr8:105801038..105801039 [GRCh38]
Chr8:106813266..106813267 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp) single nucleotide variant 46,XY sex reversal 9 [RCV000469606] Chr8:105803376 [GRCh38]
Chr8:106815604 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=) single nucleotide variant 46,XY sex reversal 9 [RCV000469703] Chr8:105803451 [GRCh38]
Chr8:106815679 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly) single nucleotide variant 46,XY sex reversal 9 [RCV000558571] Chr8:105803416 [GRCh38]
Chr8:106815644 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys) single nucleotide variant 46,XY sex reversal 9 [RCV000655307]|not provided [RCV001354602] Chr8:105801953 [GRCh38]
Chr8:106814181 [GRCh37]
Chr8:8q23.1
likely benign|uncertain significance
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) single nucleotide variant 46,XY sex reversal 9 [RCV000655308] Chr8:105803168 [GRCh38]
Chr8:106815396 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His) single nucleotide variant 46,XY sex reversal 9 [RCV000655311] Chr8:105801309 [GRCh38]
Chr8:106813537 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.1578G>T (p.Arg526=) single nucleotide variant 46,XY sex reversal 9 [RCV000655312] Chr8:105801660 [GRCh38]
Chr8:106813888 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) single nucleotide variant 46,XY sex reversal 9 [RCV000655313] Chr8:105801358 [GRCh38]
Chr8:106813586 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.533-4A>T single nucleotide variant 46,XY sex reversal 9 [RCV000655314] Chr8:105788714 [GRCh38]
Chr8:106800942 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg) single nucleotide variant 46,XY sex reversal 9 [RCV000655315] Chr8:105802583 [GRCh38]
Chr8:106814811 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) single nucleotide variant 46,XY sex reversal 9 [RCV000705620]|Tetralogy of Fallot [RCV000678773] Chr8:105801400 [GRCh38]
Chr8:106813628 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His) single nucleotide variant 46,XY sex reversal 9 [RCV000701785] Chr8:105802733 [GRCh38]
Chr8:106814961 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala) single nucleotide variant 46,XY sex reversal 9 [RCV000701895] Chr8:105802466 [GRCh38]
Chr8:106814694 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1005A>G (p.Leu335=) single nucleotide variant not provided [RCV000883154] Chr8:105801087 [GRCh38]
Chr8:106813315 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2616C>T (p.His872=) single nucleotide variant not provided [RCV000869376] Chr8:105802698 [GRCh38]
Chr8:106814926 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.740-4G>T single nucleotide variant not provided [RCV000868816] Chr8:105798720 [GRCh38]
Chr8:106810948 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2262A>G (p.Pro754=) single nucleotide variant not provided [RCV000865499] Chr8:105802344 [GRCh38]
Chr8:106814572 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2718T>C (p.Asp906=) single nucleotide variant not provided [RCV000976839] Chr8:105802800 [GRCh38]
Chr8:106815028 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2728G>A (p.Glu910Lys) single nucleotide variant not provided [RCV000868463] Chr8:105802810 [GRCh38]
Chr8:106815038 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2490A>T (p.Ile830=) single nucleotide variant not provided [RCV000864043] Chr8:105802572 [GRCh38]
Chr8:106814800 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.846G>A (p.Pro282=) single nucleotide variant 46,XY sex reversal 9 [RCV000864237] Chr8:105798830 [GRCh38]
Chr8:106811058 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2097C>T (p.His699=) single nucleotide variant 46,XY sex reversal 9 [RCV000861906] Chr8:105802179 [GRCh38]
Chr8:106814407 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1641G>A (p.Gly547=) single nucleotide variant not provided [RCV000869504] Chr8:105801723 [GRCh38]
Chr8:106813951 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro) single nucleotide variant 46,XY sex reversal 9 [RCV000817308] Chr8:105801292 [GRCh38]
Chr8:106813520 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys) single nucleotide variant 46,XY sex reversal 9 [RCV000803722] Chr8:105802288 [GRCh38]
Chr8:106814516 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro) single nucleotide variant 46,XY sex reversal 9 [RCV000817654] Chr8:105801518 [GRCh38]
Chr8:106813746 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln) single nucleotide variant Diaphragmatic hernia 3 [RCV000782369] Chr8:105801250 [GRCh38]
Chr8:106813478 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn) single nucleotide variant 46,XY sex reversal 9 [RCV000791543] Chr8:105803051 [GRCh38]
Chr8:106815279 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met) single nucleotide variant 46,XY sex reversal 9 [RCV000798330] Chr8:105801356 [GRCh38]
Chr8:106813584 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser) single nucleotide variant 46,XY sex reversal 9 [RCV000802116] Chr8:105802382 [GRCh38]
Chr8:106814610 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val) single nucleotide variant 46,XY sex reversal 9 [RCV000862743] Chr8:105788864 [GRCh38]
Chr8:106801092 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.1015G>A (p.Val339Ile) single nucleotide variant not provided [RCV000861888] Chr8:105801097 [GRCh38]
Chr8:106813325 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile) single nucleotide variant 46,XY sex reversal 9 [RCV000798220] Chr8:105801971 [GRCh38]
Chr8:106814199 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile) single nucleotide variant 46,XY sex reversal, type 3 [RCV001007697] Chr8:105801694 [GRCh38]
Chr8:106813922 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys) single nucleotide variant 46,XY sex reversal 9 [RCV001225784] Chr8:105802732 [GRCh38]
Chr8:106814960 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1303G>C (p.Asp435His) single nucleotide variant not provided [RCV001091701] Chr8:105801385 [GRCh38]
Chr8:106813613 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.3269dup (p.Ser1091fs) duplication Tetralogy of Fallot [RCV001197971] Chr8:105803350..105803351 [GRCh38]
Chr8:106815578..106815579 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1569G>C (p.Leu523=) single nucleotide variant 46,XY sex reversal 9 [RCV000862357] Chr8:105801651 [GRCh38]
Chr8:106813879 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1014C>T (p.Thr338=) single nucleotide variant not provided [RCV000870710] Chr8:105801096 [GRCh38]
Chr8:106813324 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu) single nucleotide variant 46,XY sex reversal 9 [RCV001238753] Chr8:105802201 [GRCh38]
Chr8:106814429 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser) single nucleotide variant 46,XY sex reversal 9 [RCV001243951] Chr8:105803065 [GRCh38]
Chr8:106815293 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.993del (p.Gly332fs) deletion not provided [RCV001008444] Chr8:105801075 [GRCh38]
Chr8:106813303 [GRCh37]
Chr8:8q23.1
likely pathogenic
NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys) single nucleotide variant 46,XY sex reversal, type 3 [RCV001007698] Chr8:105801337 [GRCh38]
Chr8:106813565 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val) single nucleotide variant 46,XY sex reversal, type 3 [RCV001007701] Chr8:105801085 [GRCh38]
Chr8:106813313 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2382_2383insA (p.Val795fs) insertion not provided [RCV001008616] Chr8:105802464..105802465 [GRCh38]
Chr8:106814692..106814693 [GRCh37]
Chr8:8q23.1
likely pathogenic
NM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn) single nucleotide variant 46,XY sex reversal, type 3 [RCV001007703] Chr8:105801852 [GRCh38]
Chr8:106814080 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del) deletion 46,XY sex reversal, type 3 [RCV001007704] Chr8:105801898..105801900 [GRCh38]
Chr8:106814126..106814128 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu) single nucleotide variant 46,XY sex reversal 9 [RCV001071239] Chr8:105803012 [GRCh38]
Chr8:106815240 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2238A>G (p.Leu746=) single nucleotide variant Tetralogy of Fallot [RCV001197231] Chr8:105802320 [GRCh38]
Chr8:106814548 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn) single nucleotide variant 46,XY sex reversal 9 [RCV001215425] Chr8:105803017 [GRCh38]
Chr8:106815245 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro) single nucleotide variant 46,XY sex reversal 9 [RCV001063029] Chr8:105788802 [GRCh38]
Chr8:106801030 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2201G>A (p.Arg734His) single nucleotide variant Tetralogy of Fallot [RCV001331730] Chr8:105802283 [GRCh38]
Chr8:106814511 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.3335G>A (p.Ser1112Asn) single nucleotide variant Diaphragmatic hernia 3 [RCV001262754] Chr8:105803417 [GRCh38]
Chr8:106815645 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln) single nucleotide variant 46,XY sex reversal 9 [RCV001351220] Chr8:105801803 [GRCh38]
Chr8:106814031 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys) single nucleotide variant 46,XY sex reversal 9 [RCV001306233] Chr8:105788849 [GRCh38]
Chr8:106801077 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1046A>C (p.Asn349Thr) single nucleotide variant Tetralogy of Fallot [RCV001331729] Chr8:105801128 [GRCh38]
Chr8:106813356 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys) single nucleotide variant 46,XY sex reversal 9 [RCV001317970] Chr8:105802985 [GRCh38]
Chr8:106815213 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu) single nucleotide variant 46,XY sex reversal 9 [RCV001325942] Chr8:105802715 [GRCh38]
Chr8:106814943 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1866A>G (p.Gln622=) single nucleotide variant 46,XY sex reversal 9 [RCV001343743] Chr8:105801948 [GRCh38]
Chr8:106814176 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys) single nucleotide variant 46,XY sex reversal 9 [RCV001371173] Chr8:105802377 [GRCh38]
Chr8:106814605 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu) single nucleotide variant 46,XY sex reversal 9 [RCV001344672] Chr8:105803243 [GRCh38]
Chr8:106815471 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs) duplication Diaphragmatic hernia 3 [RCV001269307] Chr8:105798739..105798740 [GRCh38]
Chr8:106810967..106810968 [GRCh37]
Chr8:8q23.1
pathogenic
NM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu) single nucleotide variant 46,XY sex reversal 9 [RCV001364333] Chr8:105802312 [GRCh38]
Chr8:106814540 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu) single nucleotide variant 46,XY sex reversal 9 [RCV001325678] Chr8:105802675 [GRCh38]
Chr8:106814903 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs) duplication Diaphragmatic hernia 3 [RCV001269308] Chr8:105801475..105801476 [GRCh38]
Chr8:106813703..106813704 [GRCh37]
Chr8:8q23.1
pathogenic

Additional Information

Database Acc Id Source(s)
COSMIC ZFPM2-AS1 COSMIC
Ensembl Genes ENSG00000251003 Ensembl
GTEx ENSG00000251003 GTEx
HGNC ID HGNC:50698 ENTREZGENE
Human Proteome Map ZFPM2-AS1 Human Proteome Map
NCBI Gene ZFPM2-AS1 ENTREZGENE
RNAcentral URS00007E33EE RNACentral
  URS00007E42C7 RNACentral