Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ZMYND15 | Human | spermatogenic failure 14 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ZMYND15 | Human | spermatogenic failure 14 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:11230166 | PMID:12477932 | PMID:20675388 | PMID:21873635 | PMID:24431330 | PMID:29987050 | PMID:31793700 | PMID:33169450 | PMID:35017390 | PMID:35973810 |
ZMYND15 (Homo sapiens - human) |
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Zmynd15 (Mus musculus - house mouse) |
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Zmynd15 (Rattus norvegicus - Norway rat) |
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Zmynd15 (Chinchilla lanigera - long-tailed chinchilla) |
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ZMYND15 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ZMYND15 (Canis lupus familiaris - dog) |
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Zmynd15 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ZMYND15 (Sus scrofa - pig) |
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ZMYND15 (Chlorocebus sabaeus - green monkey) |
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Zmynd15 (Heterocephalus glaber - naked mole-rat) |
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Variants in ZMYND15
47 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 | copy number loss | See cases [RCV000053384] | Chr17:193307..5652222 [GRCh38] Chr17:45835..5555542 [GRCh37] Chr17:43098..5496266 [NCBI36] Chr17:17p13.3-13.2 |
pathogenic |
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 | copy number loss | See cases [RCV000053406] | Chr17:3601515..7178024 [GRCh38] Chr17:3504809..7081343 [GRCh37] Chr17:3451558..7022067 [NCBI36] Chr17:17p13.2-13.1 |
pathogenic |
GRCh38/hg38 17p13.2(chr17:4141725-4841701)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054003]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054003]|See cases [RCV000054003] | Chr17:4141725..4841701 [GRCh38] Chr17:4045019..4744996 [GRCh37] Chr17:3991768..4691654 [NCBI36] Chr17:17p13.2 |
uncertain significance |
NM_001136046.2(ZMYND15):c.1360C>T (p.Pro454Ser) | single nucleotide variant | Malignant melanoma [RCV000071563] | Chr17:4743829 [GRCh38] Chr17:4647124 [GRCh37] Chr17:4593873 [NCBI36] Chr17:17p13.2 |
not provided |
NM_001136046.3(ZMYND15):c.1520_1523del (p.Lys507fs) | microsatellite | Spermatogenic failure 14 [RCV000122741] | Chr17:4744209..4744212 [GRCh38] Chr17:4647504..4647507 [GRCh37] Chr17:17p13.2 |
pathogenic |
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 | copy number loss | See cases [RCV000133721] | Chr17:2062380..5258340 [GRCh38] Chr17:1965674..5161635 [GRCh37] Chr17:1912424..5102359 [NCBI36] Chr17:17p13.3-13.2 |
pathogenic |
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 | copy number loss | See cases [RCV000134135] | Chr17:162088..6959050 [GRCh38] Chr17:45835..6862369 [GRCh37] Chr17:11879..6803093 [NCBI36] Chr17:17p13.3-13.1 |
pathogenic |
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 | copy number gain | See cases [RCV000134970] | Chr17:198748..7491129 [GRCh38] Chr17:50690..7394448 [GRCh37] Chr17:48539..7335172 [NCBI36] Chr17:17p13.3-13.1 |
pathogenic |
GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1 | copy number loss | See cases [RCV000135548] | Chr17:4044302..5943772 [GRCh38] Chr17:3947596..5847092 [GRCh37] Chr17:3894345..5787816 [NCBI36] Chr17:17p13.2 |
likely pathogenic |
GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1 | copy number loss | See cases [RCV000137514] | Chr17:4141725..4778120 [GRCh38] Chr17:4045019..4681415 [GRCh37] Chr17:3991768..4628164 [NCBI36] Chr17:17p13.2 |
uncertain significance |
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 | copy number loss | See cases [RCV000138214] | Chr17:162016..7697012 [GRCh38] Chr17:45835..7600330 [GRCh37] Chr17:11807..7541055 [NCBI36] Chr17:17p13.3-13.1 |
pathogenic |
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 | copy number gain | See cases [RCV000138531] | Chr17:162016..12343901 [GRCh38] Chr17:45835..12247218 [GRCh37] Chr17:11807..12187943 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3 | copy number gain | See cases [RCV000139650] | Chr17:4092608..5354473 [GRCh38] Chr17:3995902..5257768 [GRCh37] Chr17:3942651..5198492 [NCBI36] Chr17:17p13.2 |
likely benign |
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 | copy number loss | See cases [RCV000141658] | Chr17:150732..5935377 [GRCh38] Chr17:525..5838697 [GRCh37] Chr17:525..5779421 [NCBI36] Chr17:17p13.3-13.2 |
pathogenic |
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 | copy number gain | See cases [RCV000142236] | Chr17:150732..14764202 [GRCh38] Chr17:525..14667519 [GRCh37] Chr17:525..14608244 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3 | copy number gain | See cases [RCV000143014] | Chr17:4141725..4873241 [GRCh38] Chr17:4045019..4776536 [GRCh37] Chr17:3991768..4722711 [NCBI36] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.2(chr17:4475016-4648525)x1 | copy number loss | See cases [RCV000449426] | Chr17:4475016..4648525 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 | copy number loss | See cases [RCV000445994] | Chr17:1751557..5378509 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) | copy number gain | See cases [RCV000445679] | Chr17:1113102..6742486 [GRCh37] Chr17:17p13.3-13.1 |
pathogenic |
GRCh37/hg19 17p13.2(chr17:4389607-4829150)x3 | copy number gain | See cases [RCV000448511] | Chr17:4389607..4829150 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.2(chr17:4633847-4856516)x1 | copy number loss | See cases [RCV000510443] | Chr17:4633847..4856516 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 | copy number gain | See cases [RCV000511786] | Chr17:525..15027737 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) | copy number gain | Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] | Chr17:47546..6287620 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
NM_001136046.3(ZMYND15):c.2212G>T (p.Ala738Ser) | single nucleotide variant | not specified [RCV004310855] | Chr17:4745973 [GRCh38] Chr17:4649268 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_001136046.3(ZMYND15):c.1838-14CT[2] | microsatellite | not provided [RCV000514966] | Chr17:4744856..4744857 [GRCh38] Chr17:4648151..4648152 [GRCh37] Chr17:17p13.2 |
likely benign |
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 | copy number gain | not provided [RCV000683866] | Chr17:525..11186432 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3 | copy number gain | not provided [RCV000683882] | Chr17:4475016..4884701 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.2(chr17:4633847-4926646)x3 | copy number gain | not provided [RCV000683883] | Chr17:4633847..4926646 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3 | copy number gain | not provided [RCV000683881] | Chr17:4036861..5174346 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 | copy number loss | not provided [RCV000739374] | Chr17:3336162..4918458 [GRCh37] Chr17:17p13.2 |
likely pathogenic |
NM_001136046.3(ZMYND15):c.375A>G (p.Glu125=) | single nucleotide variant | not provided [RCV000972914] | Chr17:4740923 [GRCh38] Chr17:4644218 [GRCh37] Chr17:17p13.2 |
benign |
GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1 | copy number loss | not provided [RCV000849625] | Chr17:3759126..6128911 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 | copy number loss | See cases [RCV001007429] | Chr17:8547..5627408 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
NM_001136046.3(ZMYND15):c.1705C>T (p.Arg569Trp) | single nucleotide variant | not specified [RCV004300235] | Chr17:4744646 [GRCh38] Chr17:4647941 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.931C>T (p.Arg311Ter) | single nucleotide variant | Non-obstructive azoospermia [RCV001648514] | Chr17:4742018 [GRCh38] Chr17:4645313 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_001136046.3(ZMYND15):c.2015G>A (p.Arg672His) | single nucleotide variant | ZMYND15-related disorder [RCV003940587]|not provided [RCV000887906] | Chr17:4745333 [GRCh38] Chr17:4648628 [GRCh37] Chr17:17p13.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_001136046.3(ZMYND15):c.774T>C (p.Ser258=) | single nucleotide variant | not provided [RCV000914015] | Chr17:4741763 [GRCh38] Chr17:4645058 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_001136046.3(ZMYND15):c.1202G>A (p.Arg401His) | single nucleotide variant | not provided [RCV000957514] | Chr17:4743360 [GRCh38] Chr17:4646655 [GRCh37] Chr17:17p13.2 |
benign |
NM_001136046.3(ZMYND15):c.2057+6G>T | single nucleotide variant | Male infertility [RCV001003418] | Chr17:4745381 [GRCh38] Chr17:4648676 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1622_1636delinsCCAC (p.Leu541fs) | indel | Spermatogenic failure 14 [RCV001374582] | Chr17:4744406..4744420 [GRCh38] Chr17:4647701..4647715 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_001136046.3(ZMYND15):c.1209T>A (p.Tyr403Ter) | single nucleotide variant | Spermatogenic failure 14 [RCV001374583] | Chr17:4743367 [GRCh38] Chr17:4646662 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_001136046.3(ZMYND15):c.1650del (p.Glu551fs) | deletion | Spermatogenic failure 14 [RCV001449969] | Chr17:4744429 [GRCh38] Chr17:4647724 [GRCh37] Chr17:17p13.2 |
pathogenic |
GRCh37/hg19 17p13.2(chr17:4113551-5023913) | copy number loss | not specified [RCV002052580] | Chr17:4113551..5023913 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.2(chr17:4475016-4648525) | copy number loss | not specified [RCV002052581] | Chr17:4475016..4648525 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.2113G>A (p.Ala705Thr) | single nucleotide variant | not specified [RCV004305880] | Chr17:4745874 [GRCh38] Chr17:4649169 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_001136046.3(ZMYND15):c.824A>G (p.His275Arg) | single nucleotide variant | not specified [RCV004112628] | Chr17:4741813 [GRCh38] Chr17:4645108 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.58G>A (p.Gly20Ser) | single nucleotide variant | not specified [RCV004152021] | Chr17:4740606 [GRCh38] Chr17:4643901 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.794G>A (p.Arg265Gln) | single nucleotide variant | not specified [RCV004135084] | Chr17:4741783 [GRCh38] Chr17:4645078 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_001136046.3(ZMYND15):c.2102A>G (p.Gln701Arg) | single nucleotide variant | not specified [RCV004142985] | Chr17:4745863 [GRCh38] Chr17:4649158 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.899G>C (p.Arg300Pro) | single nucleotide variant | not specified [RCV004142359] | Chr17:4741986 [GRCh38] Chr17:4645281 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.642T>G (p.His214Gln) | single nucleotide variant | not specified [RCV004082708] | Chr17:4741631 [GRCh38] Chr17:4644926 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1091C>T (p.Ala364Val) | single nucleotide variant | not specified [RCV004211070] | Chr17:4742438 [GRCh38] Chr17:4645733 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1730G>C (p.Arg577Pro) | single nucleotide variant | not specified [RCV004203572] | Chr17:4744671 [GRCh38] Chr17:4647966 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1291C>A (p.Arg431Ser) | single nucleotide variant | not specified [RCV004142358] | Chr17:4743449 [GRCh38] Chr17:4646744 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.445C>T (p.Pro149Ser) | single nucleotide variant | not specified [RCV004129640] | Chr17:4740993 [GRCh38] Chr17:4644288 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1279C>T (p.Leu427Phe) | single nucleotide variant | not specified [RCV004158408] | Chr17:4743437 [GRCh38] Chr17:4646732 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1729C>T (p.Arg577Trp) | single nucleotide variant | not specified [RCV004081090] | Chr17:4744670 [GRCh38] Chr17:4647965 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.907T>C (p.Phe303Leu) | single nucleotide variant | not specified [RCV004278500] | Chr17:4741994 [GRCh38] Chr17:4645289 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1730G>A (p.Arg577Gln) | single nucleotide variant | not specified [RCV004250316] | Chr17:4744671 [GRCh38] Chr17:4647966 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.467A>G (p.Gln156Arg) | single nucleotide variant | not specified [RCV004267166] | Chr17:4741015 [GRCh38] Chr17:4644310 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1717G>A (p.Gly573Ser) | single nucleotide variant | not specified [RCV004252957] | Chr17:4744658 [GRCh38] Chr17:4647953 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1686C>A (p.Asp562Glu) | single nucleotide variant | not specified [RCV004331023] | Chr17:4744627 [GRCh38] Chr17:4647922 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1184C>T (p.Ala395Val) | single nucleotide variant | not specified [RCV004302047] | Chr17:4743342 [GRCh38] Chr17:4646637 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 | copy number gain | Chromosome 17p13.3 duplication syndrome [RCV003327726] | Chr17:165730..11404096 [GRCh38] Chr17:17p13.3-12 |
pathogenic |
NM_001136046.3(ZMYND15):c.925C>T (p.Arg309Cys) | single nucleotide variant | not specified [RCV004361522] | Chr17:4742012 [GRCh38] Chr17:4645307 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1348G>A (p.Val450Met) | single nucleotide variant | not specified [RCV004347676] | Chr17:4743817 [GRCh38] Chr17:4647112 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1042C>T (p.Arg348Trp) | single nucleotide variant | not specified [RCV004343801] | Chr17:4742389 [GRCh38] Chr17:4645684 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1324G>A (p.Asp442Asn) | single nucleotide variant | not specified [RCV004341218] | Chr17:4743793 [GRCh38] Chr17:4647088 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.828A>C (p.Arg276=) | single nucleotide variant | not provided [RCV003428071] | Chr17:4741915 [GRCh38] Chr17:4645210 [GRCh37] Chr17:17p13.2 |
likely benign |
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 | copy number loss | not specified [RCV003987214] | Chr17:9474..6017500 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 | copy number gain | not specified [RCV003987215] | Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2 |
pathogenic |
NM_001136046.3(ZMYND15):c.679G>T (p.Ala227Ser) | single nucleotide variant | not specified [RCV004489147] | Chr17:4741668 [GRCh38] Chr17:4644963 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.344G>A (p.Gly115Glu) | single nucleotide variant | not specified [RCV004489144] | Chr17:4740892 [GRCh38] Chr17:4644187 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.367G>C (p.Glu123Gln) | single nucleotide variant | not specified [RCV004489145] | Chr17:4740915 [GRCh38] Chr17:4644210 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1650C>G (p.Pro550=) | single nucleotide variant | ZMYND15-related disorder [RCV003944293] | Chr17:4744434 [GRCh38] Chr17:4647729 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_001136046.3(ZMYND15):c.1848C>T (p.Ser616=) | single nucleotide variant | not provided [RCV003885708] | Chr17:4744880 [GRCh38] Chr17:4648175 [GRCh37] Chr17:17p13.2 |
benign |
NM_001136046.3(ZMYND15):c.118T>G (p.Cys40Gly) | single nucleotide variant | not specified [RCV004489140] | Chr17:4740666 [GRCh38] Chr17:4643961 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1687A>G (p.Ser563Gly) | single nucleotide variant | not specified [RCV004489142] | Chr17:4744628 [GRCh38] Chr17:4647923 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_001136046.3(ZMYND15):c.632C>T (p.Thr211Met) | single nucleotide variant | not specified [RCV004489146] | Chr17:4741621 [GRCh38] Chr17:4644916 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.943G>T (p.Val315Leu) | single nucleotide variant | not specified [RCV004489148] | Chr17:4742030 [GRCh38] Chr17:4645325 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1684-5del | deletion | ZMYND15-related disorder [RCV003917251] | Chr17:4744617 [GRCh38] Chr17:4647912 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_001136046.3(ZMYND15):c.348G>A (p.Glu116=) | single nucleotide variant | ZMYND15-related disorder [RCV003931955] | Chr17:4740896 [GRCh38] Chr17:4644191 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_001136046.3(ZMYND15):c.145A>G (p.Arg49Gly) | single nucleotide variant | not specified [RCV004489141] | Chr17:4740693 [GRCh38] Chr17:4643988 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1706G>A (p.Arg569Gln) | single nucleotide variant | not specified [RCV004489143] | Chr17:4744647 [GRCh38] Chr17:4647942 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1209T>C (p.Tyr403=) | single nucleotide variant | ZMYND15-related disorder [RCV003909436] | Chr17:4743367 [GRCh38] Chr17:4646662 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_001136046.3(ZMYND15):c.506G>A (p.Arg169Gln) | single nucleotide variant | not specified [RCV004687352] | Chr17:4741054 [GRCh38] Chr17:4644349 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_001136046.3(ZMYND15):c.487G>A (p.Glu163Lys) | single nucleotide variant | not specified [RCV004687358] | Chr17:4741035 [GRCh38] Chr17:4644330 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.695G>A (p.Ser232Asn) | single nucleotide variant | not specified [RCV004687360] | Chr17:4741684 [GRCh38] Chr17:4644979 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NC_000017.10:g.(?_422368)_(8285628_?)dup | duplication | not provided [RCV004581443] | Chr17:422368..8285628 [GRCh37] Chr17:17p13.3-13.1 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1043G>A (p.Arg348Gln) | single nucleotide variant | not specified [RCV004687351] | Chr17:4742390 [GRCh38] Chr17:4645685 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.206T>C (p.Ile69Thr) | single nucleotide variant | not specified [RCV004687355] | Chr17:4740754 [GRCh38] Chr17:4644049 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1651G>A (p.Glu551Lys) | single nucleotide variant | not specified [RCV004687359] | Chr17:4744435 [GRCh38] Chr17:4647730 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.2191G>A (p.Glu731Lys) | single nucleotide variant | not specified [RCV004687354] | Chr17:4745952 [GRCh38] Chr17:4649247 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.580G>A (p.Gly194Arg) | single nucleotide variant | not specified [RCV004687356] | Chr17:4741128 [GRCh38] Chr17:4644423 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_001136046.3(ZMYND15):c.1291C>T (p.Arg431Cys) | single nucleotide variant | not specified [RCV004687353] | Chr17:4743449 [GRCh38] Chr17:4646744 [GRCh37] Chr17:17p13.2 |
uncertain significance |
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. |
RH93735 |
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adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
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entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2429 | 2782 | 2226 | 4925 | 1719 | 2313 | 4 | 621 | 1548 | 464 | 2252 | 6880 | 6063 | 46 | 3694 | 844 | 1727 | 1579 | 172 |
RefSeq Transcripts | NG_034160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001136046 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001267822 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_032265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017025218 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047436923 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047436924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054317542 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054317543 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA937353 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC091153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK302181 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK310469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL136893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC067296 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC090874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC136407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471108 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB453494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000269289 ⟹ ENSP00000269289 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000433935 ⟹ ENSP00000391742 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000571782 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000573751 ⟹ ENSP00000459501 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000574829 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000592813 ⟹ ENSP00000465435 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001136046 ⟹ NP_001129518 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001267822 ⟹ NP_001254751 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_032265 ⟹ NP_115641 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017025218 ⟹ XP_016880707 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047436923 ⟹ XP_047292879 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047436924 ⟹ XP_047292880 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317542 ⟹ XP_054173517 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317543 ⟹ XP_054173518 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001129518 | (Get FASTA) | NCBI Sequence Viewer |
NP_001254751 | (Get FASTA) | NCBI Sequence Viewer | |
NP_115641 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016880707 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047292879 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047292880 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054173517 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054173518 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | BAG63547 | (Get FASTA) | NCBI Sequence Viewer |
CAB66827 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90414 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90415 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000269289 | ||
ENSP00000269289.6 | |||
ENSP00000391742 | |||
ENSP00000391742.1 | |||
ENSP00000459501.1 | |||
ENSP00000465435 | |||
ENSP00000465435.1 | |||
GenBank Protein | Q9H091 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001129518 ⟸ NM_001136046 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B4DXY5 (UniProtKB/Swiss-Prot), I3L296 (UniProtKB/Swiss-Prot), Q9H091 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_115641 ⟸ NM_032265 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9H091 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001254751 ⟸ NM_001267822 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q9H091 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016880707 ⟸ XM_017025218 |
- Peptide Label: | isoform X3 |
- Sequence: |
Ensembl Acc Id: | ENSP00000269289 ⟸ ENST00000269289 |
Ensembl Acc Id: | ENSP00000459501 ⟸ ENST00000573751 |
Ensembl Acc Id: | ENSP00000391742 ⟸ ENST00000433935 |
Ensembl Acc Id: | ENSP00000465435 ⟸ ENST00000592813 |
RefSeq Acc Id: | XP_047292879 ⟸ XM_047436923 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047292880 ⟸ XM_047436924 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054173517 ⟸ XM_054317542 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054173518 ⟸ XM_054317543 |
- Peptide Label: | isoform X3 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9H091-F1-model_v2 | AlphaFold | Q9H091 | 1-742 | view protein structure |
RGD ID: | 6794751 | ||||||||
Promoter ID: | HG_KWN:24745 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell_12Hour, HeLa_S3 | ||||||||
Transcripts: | NM_001100812, NM_001136046, NM_022059, NM_032265, OTTHUMT00000207505, UC002FYU.1, UC002FYV.1 | ||||||||
Position: |
|
RGD ID: | 7233445 | ||||||||
Promoter ID: | EPDNEW_H22468 | ||||||||
Type: | initiation region | ||||||||
Name: | ZMYND15_2 | ||||||||
Description: | zinc finger MYND-type containing 15 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22469 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7233447 | ||||||||
Promoter ID: | EPDNEW_H22469 | ||||||||
Type: | initiation region | ||||||||
Name: | ZMYND15_1 | ||||||||
Description: | zinc finger MYND-type containing 15 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22468 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:20997 | AgrOrtholog |
COSMIC | ZMYND15 | COSMIC |
Ensembl Genes | ENSG00000141497 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000269289 | ENTREZGENE |
ENST00000269289.10 | UniProtKB/Swiss-Prot | |
ENST00000433935 | ENTREZGENE | |
ENST00000433935.6 | UniProtKB/Swiss-Prot | |
ENST00000573751.2 | UniProtKB/Swiss-Prot | |
ENST00000592813 | ENTREZGENE | |
ENST00000592813.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 6.10.140.2220 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000141497 | GTEx |
HGNC ID | HGNC:20997 | ENTREZGENE |
Human Proteome Map | ZMYND15 | Human Proteome Map |
InterPro | Mss51-like_C | UniProtKB/Swiss-Prot |
ZMY15 | UniProtKB/Swiss-Prot | |
Znf_MYND | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:84225 | UniProtKB/Swiss-Prot |
NCBI Gene | 84225 | ENTREZGENE |
OMIM | 614312 | OMIM |
PANTHER | PTHR47085 | UniProtKB/Swiss-Prot |
ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 15 | UniProtKB/Swiss-Prot | |
Pfam | MSS51_C | UniProtKB/Swiss-Prot |
zf-MYND | UniProtKB/Swiss-Prot | |
PharmGKB | PA134873463 | PharmGKB |
PROSITE | ZF_MYND_2 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | HIT/MYND zinc finger-like | UniProtKB/Swiss-Prot |
UniProt | B4DXY5 | ENTREZGENE |
I3L296 | ENTREZGENE | |
Q9H091 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | B4DXY5 | UniProtKB/Swiss-Prot |
I3L296 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-18 | ZMYND15 | zinc finger MYND-type containing 15 | zinc finger, MYND-type containing 15 | Symbol and/or name change | 5135510 | APPROVED | |
2012-06-27 | ZMYND15 | zinc finger, MYND-type containing 15 | ZMYND15 | zinc finger, MYND-type containing 15 | Symbol and/or name change | 5135510 | APPROVED |