JMJD4 (Q9H9V9) variants and mutations
JMJD4 (also known as Q9H9V9) is a human protein-coding gene encoding a 2-oxoglutarate and iron-dependent oxygenase protein. Its annotated function is catalyzes the 2-oxoglutarate and iron-dependent C4-lysyl hydroxylation of ETF1 at 'Lys-63' thereby promoting the translational termination efficiency of ETF1. It is annotated at the cytoplasm. This analysis covers 934 JMJD4 variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes osteoarthritis, hand, Varicose veins, and Abnormality of the skeletal system. Example JMJD4 variants include D2A, D2G, and D2N.
Variant analysis overview
- Gene: JMJD4
- Protein: Q9H9V9
- UniProt accession: Q9H9V9
- Organism: Homo sapiens
- Variants analyzed: 934
- Variant scope: all variants
- Completed: 2026-10-26
Variant and mutation evidence
- Variant composition: 628 unspecified-consequence records; 1 natural variant; 1 stop lost; 28 frameshift variants; 134 synonymous variants; 129 missense variants; 4 in-frame deletions; 7 stop-gained variants; 2 in-frame insertions; 3 splice-region variants
- Prediction scores: 929 variants have prediction scores (99% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: osteoarthritis, hand, Varicose veins, Abnormality of the skeletal system, carpal tunnel syndrome, chondromalacia, lymphatic system disorder, vein disorder, cancer, nonpapillary renal cell carcinoma, bronchial disorder, Hyperhidrosis, hepatocellular carcinoma.
Protein structure and variant hotspots
- Protein features: 1 domains; 3 binding sites.
- Structural context: 397 variants have structural context.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable JMJD4 variants
Examples include D2A, D2G, D2N, D2V, D2Y, R3C, R3G, R3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- D2A (p.Asp2Ala), gnomAD rs1399905802, REVEL 0.14, ESM-1b 0.00
- D2G (p.Asp2Gly), gnomAD rs1399905802, REVEL 0.11, ESM-1b 0.00, Uncertain significance, not specified
- D2N (p.Asp2Asn), gnomAD rs1284527512, REVEL 0.10, ESM-1b 0.00
- D2V (p.Asp2Val), gnomAD rs1399905802, REVEL 0.15, ESM-1b 0.00
- D2Y (p.Asp2Tyr), gnomAD rs1284527512, REVEL 0.19, ESM-1b 0.00
- R3C (p.Arg3Cys), ExAC rs763500823, TOPMed rs763500823, gnomAD rs763500823, REVEL 0.18, ESM-1b 0.02
- R3G (p.Arg3Gly), ExAC rs763500823, TOPMed rs763500823, gnomAD rs763500823, REVEL 0.07, ESM-1b 0.00
- R3L (p.Arg3Leu), 1000Genomes rs545637599, ExAC rs545637599, TOPMed rs545637599, gnomAD rs545637599, REVEL 0.07, ESM-1b 0.00, Uncertain significance, not provided
- R3S (p.Arg3Ser), ExAC rs763500823, TOPMed rs763500823, gnomAD rs763500823, REVEL 0.08, ESM-1b 0.00
- E4* (p.Glu4Ter), ExAC rs764993970, TOPMed rs764993970, gnomAD rs764993970, CADD 37.00
- E4A (p.Glu4Ala), TOPMed rs1174490538, gnomAD rs1174490538, REVEL 0.03, ESM-1b 0.00
- T5K (p.Thr5Lys), Ensembl rs1251657255, REVEL 0.11, ESM-1b 0.00
- T5R (p.Thr5Arg), Ensembl rs1251657255, REVEL 0.15, ESM-1b 0.00
- R6C (p.Arg6Cys), rs759354399, ClinGen CA1428171, ClinVar RCV004078201, ExAC rs759354399, REVEL 0.12, ESM-1b 0.00, Uncertain significance, not specified
- R6G (p.Arg6Gly), ExAC rs759354399, TOPMed rs759354399, gnomAD rs759354399, REVEL 0.03, ESM-1b 0.00, Uncertain significance
- R6H (p.Arg6His), gnomAD rs1661017690, REVEL 0.08, ESM-1b 0.00
- A7G (p.Ala7Gly), rs575178410, ClinGen CA1428169, ClinVar RCV004401265, 1000Genomes rs575178410, REVEL 0.03, ESM-1b 0.00, Uncertain significance, not specified
- A7S (p.Ala7Ser), ExAC rs776321470, TOPMed rs776321470, gnomAD rs776321470, REVEL 0.02, ESM-1b 0.00
- A7T (p.Ala7Thr), ExAC rs776321470, TOPMed rs776321470, gnomAD rs776321470, REVEL 0.00, ESM-1b 0.00
- A7V (p.Ala7Val), 1000Genomes rs575178410, ExAC rs575178410, TOPMed rs575178410, gnomAD rs575178410, REVEL 0.01, ESM-1b 0.00, Uncertain significance
- L8F (p.Leu8Phe), cosmic curated COSV10513, ExAC rs772131933, TOPMed rs772131933, gnomAD rs772131933, REVEL 0.01, ESM-1b 0.00, Likely benign, not specified
- L8V (p.Leu8Val), ExAC rs772131933, TOPMed rs772131933, gnomAD rs772131933, REVEL 0.01, ESM-1b 0.00, Likely benign
- A9D (p.Ala9Asp), TOPMed rs1253910961, gnomAD rs1253910961, REVEL 0.18, ESM-1b 0.00
- A9G (p.Ala9Gly), TOPMed rs1253910961, gnomAD rs1253910961, REVEL 0.10, ESM-1b 0.00
- A9T (p.Ala9Thr), rs748242267, ClinGen CA1428165, cosmic curated COSV59920, ClinVar RCV004401266, REVEL 0.10, ESM-1b 0.00, Uncertain significance, not specified
- A9V (p.Ala9Val), rs7419238, MetaLR 0.00, MetaSVM -1.01
- D10A (p.Asp10Ala), ExAC rs749569436, TOPMed rs749569436, gnomAD rs749569436, REVEL 0.04, ESM-1b 0.00, Uncertain significance, not specified
- D10H (p.Asp10His), ExAC rs768901659, gnomAD rs768901659, REVEL 0.07, ESM-1b 0.00
- D10N (p.Asp10Asn), ExAC rs768901659, gnomAD rs768901659, REVEL 0.09, ESM-1b 0.00
- S11C (p.Ser11Cys), 1000Genomes rs1218631147, gnomAD rs1218631147, REVEL 0.03, ESM-1b 0.00
- S11G (p.Ser11Gly), 1000Genomes rs1218631147, gnomAD rs1218631147, REVEL 0.01, ESM-1b 0.00
- S11N (p.Ser11Asn), TOPMed rs960902177, gnomAD rs960902177, REVEL 0.03, ESM-1b 0.00
- S11R (p.Ser11Arg), 1000Genomes rs1218631147, gnomAD rs1218631147, REVEL 0.03, ESM-1b 0.00
- S11T (p.Ser11Thr), TOPMed rs960902177, gnomAD rs960902177, REVEL 0.01, ESM-1b 0.00
- H12Q (p.His12Gln), ExAC rs756561360, TOPMed rs756561360, gnomAD rs756561360, REVEL 0.04, ESM-1b 0.00
- H12Y (p.His12Tyr), ExAC rs780259421, TOPMed rs780259421, gnomAD rs780259421, REVEL 0.01, ESM-1b 0.00
- F13L (p.Phe13Leu), cosmic curated COSV59918, REVEL 0.04, ESM-1b 0.00
- F13S (p.Phe13Ser), cosmic curated COSV59919, REVEL 0.10, ESM-1b 0.00
- R14* (p.Arg14Ter), gnomAD rs1378483014, CADD 37.00
- L16P (p.Leu16Pro), gnomAD rs1406622086, REVEL 0.12, ESM-1b 0.00
- G17R (p.Gly17Arg), ExAC rs757921934, TOPMed rs757921934, gnomAD rs757921934, REVEL 0.04, ESM-1b 0.00, Likely benign, not specified
- V18G (p.Val18Gly), Ensembl rs2102872274, REVEL 0.01, ESM-1b 0.00
- D19E (p.Asp19Glu), rs2295994, cosmic curated COSV59916, UniProt VAR 032900, 1000Genomes rs2295994, REVEL 0.03, ESM-1b 0.00
- D19G (p.Asp19Gly), ExAC rs753572254, gnomAD rs753572254, REVEL 0.01, ESM-1b 0.00
- D19H (p.Asp19His), ExAC rs754645573, gnomAD rs754645573, REVEL 0.03, ESM-1b 0.00
- D19Y (p.Asp19Tyr), ExAC rs754645573, gnomAD rs754645573, REVEL 0.04, ESM-1b 0.00
- V20A (p.Val20Ala), ExAC rs760582646, gnomAD rs760582646, REVEL 0.01, ESM-1b 0.00
- P21A (p.Pro21Ala), TOPMed rs1198421326, gnomAD rs1198421326, REVEL 0.06, ESM-1b 0.00
- P21H (p.Pro21His), ExAC rs767467840, TOPMed rs767467840, gnomAD rs767467840, REVEL 0.05, ESM-1b 0.00, Uncertain significance
- P21R (p.Pro21Arg), ExAC rs767467840, TOPMed rs767467840, gnomAD rs767467840, REVEL 0.08, ESM-1b 0.00, Uncertain significance, not specified
- P21S (p.Pro21Ser), cosmic curated COSV10460, TOPMed rs1198421326, gnomAD rs1198421326, REVEL 0.05, ESM-1b 0.00, Uncertain significance, not specified
- G22C (p.Gly22Cys), ExAC rs768777109, TOPMed rs768777109, REVEL 0.08, ESM-1b 0.00
- G22S (p.Gly22Ser), cosmic curated COSV10646, ExAC rs768777109, TOPMed rs768777109, REVEL 0.01, ESM-1b 0.00
- G22V (p.Gly22Val), ExAC rs763077158, TOPMed rs763077158, gnomAD rs763077158, REVEL 0.02, ESM-1b 0.00
- V23I (p.Val23Ile), ExAC rs775852161, TOPMed rs775852161, REVEL 0.01, ESM-1b 0.00
- V23L (p.Val23Leu), ExAC rs775852161, TOPMed rs775852161, REVEL 0.01, ESM-1b 0.00
- G24R (p.Gly24Arg), ExAC rs746254779, TOPMed rs746254779, gnomAD rs746254779, REVEL 0.03, ESM-1b 0.00, Uncertain significance
- G24S (p.Gly24Ser), ExAC rs746254779, TOPMed rs746254779, gnomAD rs746254779, REVEL 0.00, ESM-1b 0.00, Uncertain significance, not specified
- A26G (p.Ala26Gly), ExAC rs747554405, TOPMed rs747554405, gnomAD rs747554405, REVEL 0.00, ESM-1b 0.00
- A26S (p.Ala26Ser), rs781744631, ClinGen CA1428141, ClinVar RCV004223968, ExAC rs781744631, REVEL 0.02, ESM-1b 0.00, Uncertain significance, not specified
- A26V (p.Ala26Val), ExAC rs747554405, TOPMed rs747554405, gnomAD rs747554405, REVEL 0.01, ESM-1b 0.00
- P27A (p.Pro27Ala), TOPMed rs1330874434, gnomAD rs1330874434, REVEL 0.10, ESM-1b 0.00
- P27L (p.Pro27Leu), ExAC rs754574195, gnomAD rs754574195, REVEL 0.01, ESM-1b 0.00
- P27T (p.Pro27Thr), TOPMed rs1330874434, gnomAD rs1330874434, REVEL 0.11, ESM-1b 0.00
- G28V (p.Gly28Val), cosmic curated COSV59919, REVEL 0.02, ESM-1b 0.00
- R29P (p.Arg29Pro), gnomAD rs1457329971, REVEL 0.09, ESM-1b 0.00
- R29W (p.Arg29Trp), gnomAD rs908205724, REVEL 0.06, ESM-1b 0.26
- V30I (p.Val30Ile), gnomAD rs1382921912, REVEL 0.04, ESM-1b 0.00
- V30L (p.Val30Leu), gnomAD rs1382921912, REVEL 0.06, ESM-1b 0.00
- A31S (p.Ala31Ser), 1000Genomes rs368383751, ESP rs368383751, ExAC rs368383751, TOPMed rs368383751, REVEL 0.02, ESM-1b 0.00
- A31T (p.Ala31Thr), 1000Genomes rs368383751, ESP rs368383751, ExAC rs368383751, TOPMed rs368383751, REVEL 0.02, ESM-1b 0.00
- A31V (p.Ala31Val), ExAC rs755818958, gnomAD rs755818958, REVEL 0.03, ESM-1b 0.00
- S34L (p.Ser34Leu), 1000Genomes rs201975311, ESP rs201975311, ExAC rs201975311, TOPMed rs201975311, REVEL 0.01, ESM-1b 0.00
- S34W (p.Ser34Trp), cosmic curated COSV59917, 1000Genomes rs201975311, ESP rs201975311, ExAC rs201975311, REVEL 0.12, ESM-1b 0.00
- E35G (p.Glu35Gly), cosmic curated COSV59917, Ensembl rs1661002772, REVEL 0.03, ESM-1b 0.00
- E35K (p.Glu35Lys), ExAC rs761716600, gnomAD rs761716600, REVEL 0.05, ESM-1b 0.53
- P36L (p.Pro36Leu), gnomAD rs1196945237, REVEL 0.08, ESM-1b 0.00
- G37C (p.Gly37Cys), 1000Genomes rs201199352, ESP rs201199352, ExAC rs201199352, TOPMed rs201199352, REVEL 0.02, ESM-1b 0.26
- G37D (p.Gly37Asp), TOPMed rs1289958223, REVEL 0.00, ESM-1b 0.00
- G37S (p.Gly37Ser), 1000Genomes rs201199352, ESP rs201199352, ExAC rs201199352, TOPMed rs201199352, REVEL 0.04, ESM-1b 0.00
- A38D (p.Ala38Asp), ExAC rs775519701, TOPMed rs775519701, gnomAD rs775519701, REVEL 0.02, ESM-1b 0.00
- A38G (p.Ala38Gly), ExAC rs775519701, TOPMed rs775519701, gnomAD rs775519701, REVEL 0.03, ESM-1b 0.00
- A38S (p.Ala38Ser), ExAC rs763102204, TOPMed rs763102204, gnomAD rs763102204, REVEL 0.01, ESM-1b 0.00, Likely benign, not specified
- A38T (p.Ala38Thr), ExAC rs763102204, TOPMed rs763102204, gnomAD rs763102204, REVEL 0.01, ESM-1b 0.00, Likely benign
- F39L (p.Phe39Leu), TOPMed rs1337369813, gnomAD rs1337369813, REVEL 0.15, ESM-1b 0.00
- F39Y (p.Phe39Tyr), gnomAD rs1237124197, REVEL 0.14, ESM-1b 0.62
- S40F (p.Ser40Phe), rs2527554802, ClinGen CA345074477, ClinVar RCV004401267, REVEL 0.57, ESM-1b 1.00, Uncertain significance, not specified
- Y41C (p.Tyr41Cys), ExAC rs777101659, TOPMed rs777101659, gnomAD rs777101659, REVEL 0.37, ESM-1b 1.00
- Y41F (p.Tyr41Phe), ExAC rs777101659, TOPMed rs777101659, gnomAD rs777101659, REVEL 0.23, ESM-1b 0.61
- A42T (p.Ala42Thr), TOPMed rs1660999229, REVEL 0.08, ESM-1b 0.00
- A42V (p.Ala42Val), ExAC rs771467082, gnomAD rs771467082, REVEL 0.09, ESM-1b 0.36
- R46L (p.Arg46Leu), cosmic curated COSV10513, REVEL 0.04, ESM-1b 1.00
- R46P (p.Arg46Pro), ExAC rs778490477, TOPMed rs778490477, gnomAD rs778490477, REVEL 0.10, ESM-1b 1.00
- R46W (p.Arg46Trp), rs111401193, ClinGen CA1428121, ClinVar RCV004077311, ESP rs111401193, REVEL 0.06, ESM-1b 1.00, Uncertain significance, not specified
- G47C (p.Gly47Cys), cosmic curated COSV59919, REVEL 0.22, ESM-1b 0.00
- G47D (p.Gly47Asp), gnomAD rs1371187072, REVEL 0.12, ESM-1b 0.00
- G47S (p.Gly47Ser), gnomAD rs1470953093, REVEL 0.06, ESM-1b 0.00
- G47V (p.Gly47Val), cosmic curated COSV59918, REVEL 0.26, ESM-1b 0.00
- F48L (p.Phe48Leu), TOPMed rs1660997155, gnomAD rs1660997155, REVEL 0.41, ESM-1b 0.00
- L49* (p.Leu49Ter), gnomAD rs1660996178, CADD 38.00
- L49M (p.Leu49Met), TOPMed rs1365983730, gnomAD rs1365983730, REVEL 0.13, ESM-1b 0.57, Uncertain significance, not specified
- P51H (p.Pro51His), cosmic curated COSV59917, gnomAD rs866628747, REVEL 0.56, ESM-1b 1.00
- P51L (p.Pro51Leu), gnomAD rs866628747, REVEL 0.55, ESM-1b 1.00
- N52D (p.Asn52Asp), TOPMed rs1395210219, REVEL 0.58, ESM-1b 1.00
- N52S (p.Asn52Ser), cosmic curated COSV59919, ExAC rs767983041, TOPMed rs767983041, gnomAD rs767983041, REVEL 0.47, ESM-1b 1.00
- N52T (p.Asn52Thr), ExAC rs767983041, TOPMed rs767983041, gnomAD rs767983041, REVEL 0.60, ESM-1b 1.00
- P54S (p.Pro54Ser), TOPMed rs1660994394, REVEL 0.97, ESM-1b 1.00
- C55F (p.Cys55Phe), Ensembl rs867703284, REVEL 0.32, ESM-1b 1.00
- C55S (p.Cys55Ser), Ensembl rs867703284, REVEL 0.43, ESM-1b 1.00
- V56L (p.Val56Leu), TOPMed rs992174394, gnomAD rs992174394, REVEL 0.05, ESM-1b 0.00
- F57I (p.Phe57Ile), TOPMed rs1660992937, REVEL 0.33, ESM-1b 1.00
- S58A (p.Ser58Ala), gnomAD rs1203676858, REVEL 0.16, ESM-1b 0.11
- S58C (p.Ser58Cys), 1000Genomes rs552801369, gnomAD rs552801369, REVEL 0.26, ESM-1b 1.00
- S58F (p.Ser58Phe), 1000Genomes rs552801369, gnomAD rs552801369, REVEL 0.32, ESM-1b 1.00
- A60S (p.Ala60Ser), TOPMed rs961211760, REVEL 0.03, ESM-1b 0.00
- A60V (p.Ala60Val), cosmic curated COSV59916, TOPMed rs926889471, REVEL 0.04, ESM-1b 0.31
- T62M (p.Thr62Met), gnomAD rs1660991416, REVEL 0.26, ESM-1b 1.00
- Q63R (p.Gln63Arg), gnomAD rs1222691853, REVEL 0.05, ESM-1b 0.00
- G64D (p.Gly64Asp), ExAC rs779534949, gnomAD rs779534949, REVEL 0.07, ESM-1b 0.00
- G66R (p.Gly66Arg), gnomAD rs1285163694, REVEL 0.07, ESM-1b 0.00
- S67T (p.Ser67Thr), Ensembl rs1660989844, REVEL 0.13, ESM-1b 1.00
- R68G (p.Arg68Gly), cosmic curated COSV59916, REVEL 0.22, ESM-1b 1.00
- R69L (p.Arg69Leu), Ensembl rs2102871246, REVEL 0.09, ESM-1b 1.00
- R69W (p.Arg69Trp), rs780957060, ClinGen CA1428113, ClinVar RCV004290879, ExAC rs780957060, REVEL 0.07, ESM-1b 1.00, Uncertain significance, not specified
- R70H (p.Arg70His), Ensembl rs1660989043, REVEL 0.02, ESM-1b 0.00
- W71* (p.Trp71Ter), gnomAD rs1206798125, CADD 39.00
- W71L (p.Trp71Leu), cosmic curated COSV10460, REVEL 0.75, ESM-1b 1.00
- V72G (p.Val72Gly), Ensembl rs1571969813, REVEL 0.39, ESM-1b 1.00
- V72L (p.Val72Leu), Ensembl rs868331886, REVEL 0.11, ESM-1b 0.00
- T73A (p.Thr73Ala), Ensembl rs1660988267, REVEL 0.10, ESM-1b 1.00
- P74S (p.Pro74Ser), gnomAD rs1171589258, REVEL 0.03, ESM-1b 0.58
- A75T (p.Ala75Thr), ExAC rs372581089, TOPMed rs372581089, gnomAD rs372581089, REVEL 0.04, ESM-1b 0.00
- G76V (p.Gly76Val), Ensembl rs1660986869, REVEL 0.29, ESM-1b 1.00
- P78T (p.Pro78Thr), ExAC rs758357951, gnomAD rs758357951, REVEL 0.25, ESM-1b 1.00
- D79N (p.Asp79Asn), ExAC rs752849935, gnomAD rs752849935, REVEL 0.05, ESM-1b 0.00
- D81A (p.Asp81Ala), Ensembl rs1571969722, REVEL 0.09, ESM-1b 0.00
- D81E (p.Asp81Glu), TOPMed rs1191126231, gnomAD rs1191126231, REVEL 0.03, ESM-1b 0.00
- H82R (p.His82Arg), 1000Genomes rs765269210, ExAC rs765269210, TOPMed rs765269210, gnomAD rs765269210, REVEL 0.07, ESM-1b 0.00
- L84P (p.Leu84Pro), TOPMed rs1203241290, gnomAD rs1203241290, REVEL 0.27, ESM-1b 1.00
- T86P (p.Thr86Pro), TOPMed rs1241083996, REVEL 0.04, ESM-1b 1.00
- T86S (p.Thr86Ser), TOPMed rs1241083996, REVEL 0.01, ESM-1b 0.00
- Y87D (p.Tyr87Asp), ExAC rs777050845, gnomAD rs777050845, REVEL 0.17, ESM-1b 1.00
- Y87F (p.Tyr87Phe), ExAC rs766845110, TOPMed rs766845110, gnomAD rs766845110, REVEL 0.09, ESM-1b 0.00
- G88R (p.Gly88Arg), gnomAD rs768239191, REVEL 0.30, ESM-1b 1.00
- G88V (p.Gly88Val), ESP rs373897456, ExAC rs373897456, TOPMed rs373897456, gnomAD rs373897456, REVEL 0.30, ESM-1b 1.00
- V90G (p.Val90Gly), Ensembl rs2102869894, REVEL 0.07, ESM-1b 0.91
- V90M (p.Val90Met), TOPMed rs1206618179, gnomAD rs1206618179, REVEL 0.09, ESM-1b 0.79
- V91L (p.Val91Leu), ExAC rs745399612, gnomAD rs745399612, REVEL 0.03, ESM-1b 0.00
- P93L (p.Pro93Leu), ExAC rs776218972, gnomAD rs776218972, REVEL 0.40, ESM-1b 1.00
- P93Q (p.Pro93Gln), cosmic curated COSV10024, REVEL 0.32, ESM-1b 1.00
- P93S (p.Pro93Ser), Ensembl rs936044527, REVEL 0.31, ESM-1b 1.00
- V94I (p.Val94Ile), cosmic curated COSV10024, REVEL 0.18, ESM-1b 1.00
- V94L (p.Val94Leu), cosmic curated COSV10024, REVEL 0.26, ESM-1b 1.00
- A95V (p.Ala95Val), gnomAD rs1351305915, REVEL 0.32, ESM-1b 1.00
- N96D (p.Asn96Asp), ExAC rs770598902, gnomAD rs770598902, REVEL 0.08, ESM-1b 0.00
- G98E (p.Gly98Glu), ExAC rs746700928, TOPMed rs746700928, gnomAD rs746700928, REVEL 0.08, ESM-1b 1.00, Uncertain significance, not specified
- G98R (p.Gly98Arg), gnomAD rs1360923568, REVEL 0.09, ESM-1b 0.96
- V99A (p.Val99Ala), TOPMed rs977414047, gnomAD rs977414047, REVEL 0.05, ESM-1b 0.00, Uncertain significance, not specified
- V99F (p.Val99Phe), cosmic curated COSV10024, ESP rs200460718, ExAC rs200460718, TOPMed rs200460718, REVEL 0.13, ESM-1b 1.00
- V99I (p.Val99Ile), ESP rs200460718, ExAC rs200460718, TOPMed rs200460718, gnomAD rs200460718, REVEL 0.05, ESM-1b 0.40
- Q100H (p.Gln100His), cosmic curated COSV59918, REVEL 0.11, ESM-1b 0.00
- E101K (p.Glu101Lys), cosmic curated COSV59917, 1000Genomes rs148842395, ESP rs148842395, ExAC rs148842395, REVEL 0.14, ESM-1b 1.00, Uncertain significance, not specified
- Y102* (p.Tyr102Ter), cosmic curated COSV59916
- N103K (p.Asn103Lys), ESP rs373064733, TOPMed rs373064733, gnomAD rs373064733, REVEL 0.18, ESM-1b 1.00
- N103T (p.Asn103Thr), gnomAD rs1303023825, REVEL 0.24, ESM-1b 0.18
- S104W (p.Ser104Trp), gnomAD rs1367496567, REVEL 0.32, ESM-1b 1.00
- N105K (p.Asn105Lys), TOPMed rs1660955631, REVEL 0.13, ESM-1b 0.00
- N105S (p.Asn105Ser), gnomAD rs1660955834, REVEL 0.09, ESM-1b 0.00
- P106H (p.Pro106His), cosmic curated COSV10024, REVEL 0.27, ESM-1b 1.00
- P106R (p.Pro106Arg), Ensembl rs972058559, REVEL 0.29, ESM-1b 1.00
- P106S (p.Pro106Ser), ExAC rs755049145, gnomAD rs755049145, REVEL 0.26, ESM-1b 1.00
- K107E (p.Lys107Glu), TOPMed rs1660954783, REVEL 0.21, ESM-1b 1.00
- K107N (p.Lys107Asn), cosmic curated COSV10024, REVEL 0.24, ESM-1b 1.00
- E108K (p.Glu108Lys), ESP rs138383272, TOPMed rs138383272, gnomAD rs138383272, REVEL 0.05, ESM-1b 1.00
- E108Q (p.Glu108Gln), ESP rs138383272, TOPMed rs138383272, gnomAD rs138383272, REVEL 0.04, ESM-1b 0.01
- E108V (p.Glu108Val), gnomAD rs1470360030, REVEL 0.15, ESM-1b 0.17
- H109D (p.His109Asp), cosmic curated COSV59916, REVEL 0.05, ESM-1b 0.00
- H109L (p.His109Leu), cosmic curated COSV59916, REVEL 0.05, ESM-1b 0.00
- H109P (p.His109Pro), TOPMed rs1368387374, REVEL 0.11, ESM-1b 0.00
- M110I (p.Met110Ile), gnomAD rs1197148681, REVEL 0.06, ESM-1b 0.00
Public JMJD4 analysis runs
- JMJD4 analysis run — JMJD4 (934 variants) — completed 2026-10-26