Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SPATA16 | Human | spermatogenic failure 6 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SPATA16 | Human | spermatogenic failure 6 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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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 |
6. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:12529416 | PMID:14702039 | PMID:16344560 | PMID:16372119 | PMID:17665087 | PMID:17847006 | PMID:20379614 | PMID:21873635 | PMID:22219177 | PMID:24825417 | PMID:24839885 | PMID:27086357 |
PMID:29065458 | PMID:30021884 | PMID:30912172 | PMID:35248021 | PMID:36177775 |
SPATA16 (Homo sapiens - human) |
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Spata16 (Mus musculus - house mouse) |
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Spata16 (Rattus norvegicus - Norway rat) |
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Spata16 (Chinchilla lanigera - long-tailed chinchilla) |
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SPATA16 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SPATA16 (Canis lupus familiaris - dog) |
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Spata16 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SPATA16 (Sus scrofa - pig) |
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SPATA16 (Chlorocebus sabaeus - green monkey) |
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Spata16 (Heterocephalus glaber - naked mole-rat) |
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Variants in SPATA16
78 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln) | single nucleotide variant | Globozoospermia [RCV000001476]|not provided [RCV001476874] | Chr3:173019486 [GRCh38] Chr3:172737276 [GRCh37] Chr3:3q26.31 |
pathogenic|likely benign|uncertain significance |
NM_031955.5(SPATA16):c.1587+7934G>C | single nucleotide variant | Lung cancer [RCV000093278] | Chr3:172905727 [GRCh38] Chr3:172623517 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.5(SPATA16):c.1082-520C>A | single nucleotide variant | Lung cancer [RCV000093279] | Chr3:172926012 [GRCh38] Chr3:172643802 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 | copy number gain | See cases [RCV000051724] | Chr3:147442566..178522531 [GRCh38] Chr3:147160353..178240319 [GRCh37] Chr3:148643043..179723013 [NCBI36] Chr3:3q24-26.32 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 | copy number gain | See cases [RCV000051726] | Chr3:157293378..198134727 [GRCh38] Chr3:157011167..197861598 [GRCh37] Chr3:158493861..199345995 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] | Chr3:137126982..198110178 [GRCh38] Chr3:136845824..197837049 [GRCh37] Chr3:138328514..199321446 [NCBI36] Chr3:3q22.3-29 |
pathogenic |
NM_031955.5(SPATA16):c.537C>T (p.Ala179=) | single nucleotide variant | Malignant melanoma [RCV000065932] | Chr3:173117195 [GRCh38] Chr3:172834985 [GRCh37] Chr3:174317679 [NCBI36] Chr3:3q26.31 |
not provided |
NM_031955.5(SPATA16):c.811G>A (p.Val271Met) | single nucleotide variant | Malignant melanoma [RCV000060771] | Chr3:173019523 [GRCh38] Chr3:172737313 [GRCh37] Chr3:174220007 [NCBI36] Chr3:3q26.31 |
not provided |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 | copy number gain | See cases [RCV000134948] | Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 | copy number gain | See cases [RCV000137106] | Chr3:168167568..198110178 [GRCh38] Chr3:167885356..197837049 [GRCh37] Chr3:169368050..199321446 [NCBI36] Chr3:3q26.2-29 |
pathogenic |
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 | copy number gain | See cases [RCV000139359] | Chr3:165158611..180130168 [GRCh38] Chr3:164876399..179847956 [GRCh37] Chr3:166359093..181330650 [NCBI36] Chr3:3q26.1-26.33 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 | copy number gain | See cases [RCV000142310] | Chr3:156118441..198125115 [GRCh38] Chr3:155836230..197851986 [GRCh37] Chr3:157318924..199336383 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q26.31(chr3:171968610-173131280)x1 | copy number loss | See cases [RCV000142520] | Chr3:171968610..173131280 [GRCh38] Chr3:171686400..172849070 [GRCh37] Chr3:173169094..174331764 [NCBI36] Chr3:3q26.31 |
likely pathogenic|uncertain significance |
NM_031955.6(SPATA16):c.1513C>T (p.Leu505=) | single nucleotide variant | Globozoospermia [RCV000261704] | Chr3:172913735 [GRCh38] Chr3:172631525 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.576C>T (p.Tyr192=) | single nucleotide variant | Globozoospermia [RCV000284357] | Chr3:173117156 [GRCh38] Chr3:172834946 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 | copy number gain | See cases [RCV000240256] | Chr3:142995020..192997215 [GRCh37] Chr3:3q24-29 |
pathogenic |
NM_031955.6(SPATA16):c.130T>A (p.Ser44Thr) | single nucleotide variant | Globozoospermia [RCV000274552] | Chr3:173117602 [GRCh38] Chr3:172835392 [GRCh37] Chr3:3q26.31 |
benign|likely benign |
NM_031955.6(SPATA16):c.91A>T (p.Met31Leu) | single nucleotide variant | Globozoospermia [RCV000275796]|not specified [RCV004021899] | Chr3:173117641 [GRCh38] Chr3:172835431 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 | copy number gain | See cases [RCV000051725] | Chr3:147521892..198096565 [GRCh38] Chr3:147239679..197823436 [GRCh37] Chr3:148722369..199307833 [NCBI36] Chr3:3q24-29 |
pathogenic |
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 | copy number gain | See cases [RCV000139435] | Chr3:152100512..198118383 [GRCh38] Chr3:151818301..197845254 [GRCh37] Chr3:153300991..199329651 [NCBI36] Chr3:3q25.1-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 | copy number gain | See cases [RCV000140849] | Chr3:156321878..198113452 [GRCh38] Chr3:156039667..197840323 [GRCh37] Chr3:157522361..199324720 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 | copy number gain | See cases [RCV000142107] | Chr3:167717962..188365272 [GRCh38] Chr3:167435750..188083060 [GRCh37] Chr3:168918444..189565754 [NCBI36] Chr3:3q26.1-28 |
likely pathogenic |
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 | copy number gain | See cases [RCV000143694] | Chr3:166137209..198125115 [GRCh38] Chr3:165854997..197851986 [GRCh37] Chr3:167337691..199336383 [NCBI36] Chr3:3q26.1-29 |
pathogenic |
NM_031955.6(SPATA16):c.873G>A (p.Met291Ile) | single nucleotide variant | Globozoospermia [RCV000332674] | Chr3:172977028 [GRCh38] Chr3:172694818 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1365G>T (p.Val455=) | single nucleotide variant | Globozoospermia [RCV000353136] | Chr3:172916455 [GRCh38] Chr3:172634245 [GRCh37] Chr3:3q26.31 |
likely benign|uncertain significance |
NM_031955.6(SPATA16):c.232G>A (p.Glu78Lys) | single nucleotide variant | Globozoospermia [RCV000300819]|not provided [RCV001683373] | Chr3:173117500 [GRCh38] Chr3:172835290 [GRCh37] Chr3:3q26.31 |
benign|likely benign |
NM_031955.6(SPATA16):c.397A>G (p.Met133Val) | single nucleotide variant | Globozoospermia [RCV000354596]|not provided [RCV001691984] | Chr3:173117335 [GRCh38] Chr3:172835125 [GRCh37] Chr3:3q26.31 |
benign |
NM_031955.5(SPATA16):c.-159C>A | single nucleotide variant | Spermatogenic Failure [RCV000376890] | Chr3:173141243 [GRCh38] Chr3:172859033 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.149A>G (p.Asn50Ser) | single nucleotide variant | Globozoospermia [RCV000355688]|not provided [RCV000946775] | Chr3:173117583 [GRCh38] Chr3:172835373 [GRCh37] Chr3:3q26.31 |
benign|likely benign|uncertain significance |
NM_031955.6(SPATA16):c.440G>A (p.Gly147Glu) | single nucleotide variant | Globozoospermia [RCV000402731]|not provided [RCV001691983] | Chr3:173117292 [GRCh38] Chr3:172835082 [GRCh37] Chr3:3q26.31 |
benign|likely benign |
NM_031955.6(SPATA16):c.1401G>T (p.Gln467His) | single nucleotide variant | Globozoospermia [RCV000319274] | Chr3:172916419 [GRCh38] Chr3:172634209 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1526C>T (p.Ala509Val) | single nucleotide variant | Globozoospermia [RCV000358764] | Chr3:172913722 [GRCh38] Chr3:172631512 [GRCh37] Chr3:3q26.31 |
likely benign|uncertain significance |
NM_031955.6(SPATA16):c.-121G>A | single nucleotide variant | Globozoospermia [RCV000380877] | Chr3:173141205 [GRCh38] Chr3:172858995 [GRCh37] Chr3:3q26.31 |
likely benign|uncertain significance |
NM_031955.6(SPATA16):c.828G>A (p.Glu276=) | single nucleotide variant | Globozoospermia [RCV000288035] | Chr3:173019506 [GRCh38] Chr3:172737296 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.430A>C (p.Met144Leu) | single nucleotide variant | Globozoospermia [RCV000304191] | Chr3:173117302 [GRCh38] Chr3:172835092 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.848+15del | deletion | Spermatogenic Failure [RCV000382509] | Chr3:173019471 [GRCh38] Chr3:172737261 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.328A>C (p.Met110Leu) | single nucleotide variant | Globozoospermia [RCV000406340]|SPATA16-related condition [RCV003910351] | Chr3:173117404 [GRCh38] Chr3:172835194 [GRCh37] Chr3:3q26.31 |
likely benign|uncertain significance |
NM_031955.6(SPATA16):c.1117G>A (p.Asp373Asn) | single nucleotide variant | Globozoospermia [RCV000386087] | Chr3:172925457 [GRCh38] Chr3:172643247 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.25T>C (p.Leu9=) | single nucleotide variant | Globozoospermia [RCV000326199] | Chr3:173117707 [GRCh38] Chr3:172835497 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.720G>A (p.Arg240=) | single nucleotide variant | Globozoospermia [RCV000347773] | Chr3:173048987 [GRCh38] Chr3:172766777 [GRCh37] Chr3:3q26.31 |
benign|likely benign |
NM_031955.6(SPATA16):c.995C>T (p.Ala332Val) | single nucleotide variant | Globozoospermia [RCV000296368] | Chr3:172956763 [GRCh38] Chr3:172674553 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.105G>A (p.Ala35=) | single nucleotide variant | Globozoospermia [RCV000310920] | Chr3:173117627 [GRCh38] Chr3:172835417 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.675C>T (p.Ser225=) | single nucleotide variant | Globozoospermia [RCV000392766]|not provided [RCV001691982] | Chr3:173049032 [GRCh38] Chr3:172766822 [GRCh37] Chr3:3q26.31 |
benign|likely benign |
NM_031955.6(SPATA16):c.104C>T (p.Ala35Val) | single nucleotide variant | Globozoospermia [RCV000370363] | Chr3:173117628 [GRCh38] Chr3:172835418 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1143A>G (p.Gln381=) | single nucleotide variant | Globozoospermia [RCV000331613] | Chr3:172925431 [GRCh38] Chr3:172643221 [GRCh37] Chr3:3q26.31 |
likely benign|uncertain significance |
NM_031955.6(SPATA16):c.-141C>T | single nucleotide variant | Spermatogenic Failure [RCV000272518] | Chr3:173141225 [GRCh38] Chr3:172859015 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1324A>G (p.Ser442Gly) | single nucleotide variant | Globozoospermia [RCV000262456] | Chr3:172924222 [GRCh38] Chr3:172642012 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.546T>C (p.Asp182=) | single nucleotide variant | Globozoospermia [RCV000339414] | Chr3:173117186 [GRCh38] Chr3:172834976 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 | copy number gain | See cases [RCV000447464] | Chr3:158980631..197766890 [GRCh37] Chr3:3q25.32-29 |
pathogenic |
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 | copy number gain | See cases [RCV000448608] | Chr3:152356847..197851986 [GRCh37] Chr3:3q25.2-29 |
pathogenic |
NM_031955.6(SPATA16):c.400G>A (p.Gly134Ser) | single nucleotide variant | not specified [RCV004325537] | Chr3:173117332 [GRCh38] Chr3:172835122 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) | copy number gain | See cases [RCV000512358] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 | copy number gain | not provided [RCV000742133] | Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_031955.6(SPATA16):c.490C>T (p.His164Tyr) | single nucleotide variant | Globozoospermia [RCV001147309] | Chr3:173117242 [GRCh38] Chr3:172835032 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.430A>G (p.Met144Val) | single nucleotide variant | Globozoospermia [RCV001147310] | Chr3:173117302 [GRCh38] Chr3:172835092 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.406C>T (p.Arg136Cys) | single nucleotide variant | Globozoospermia [RCV001148232] | Chr3:173117326 [GRCh38] Chr3:172835116 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1707G>C (p.Arg569Ser) | single nucleotide variant | SPATA16-related condition [RCV003910398]|not provided [RCV000881783] | Chr3:172889573 [GRCh38] Chr3:172607363 [GRCh37] Chr3:3q26.31 |
benign |
NM_031955.6(SPATA16):c.1588-2A>G | single nucleotide variant | Globozoospermia [RCV000778690] | Chr3:172889694 [GRCh38] Chr3:172607484 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1577T>C (p.Met526Thr) | single nucleotide variant | Globozoospermia [RCV001148127] | Chr3:172913671 [GRCh38] Chr3:172631461 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_031955.6(SPATA16):c.1389C>A (p.Ser463Arg) | single nucleotide variant | Globozoospermia [RCV001149676] | Chr3:172916431 [GRCh38] Chr3:172634221 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1361G>A (p.Gly454Asp) | single nucleotide variant | Globozoospermia [RCV001149677] | Chr3:172916459 [GRCh38] Chr3:172634249 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.251G>A (p.Arg84Gln) | single nucleotide variant | Globozoospermia [RCV001148233]|not specified [RCV004032758] | Chr3:173117481 [GRCh38] Chr3:172835271 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.*138C>A | single nucleotide variant | Globozoospermia [RCV001148125] | Chr3:172889432 [GRCh38] Chr3:172607222 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1503+15T>C | single nucleotide variant | Globozoospermia [RCV001149675] | Chr3:172916302 [GRCh38] Chr3:172634092 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.-2C>T | single nucleotide variant | Globozoospermia [RCV001149783] | Chr3:173117733 [GRCh38] Chr3:172835523 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1613A>G (p.Tyr538Cys) | single nucleotide variant | not specified [RCV004289389] | Chr3:172889667 [GRCh38] Chr3:172607457 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1708T>C (p.Ter570Gln) | single nucleotide variant | SPATA16-related condition [RCV003910397]|not provided [RCV000881782] | Chr3:172889572 [GRCh38] Chr3:172607362 [GRCh37] Chr3:3q26.31 |
benign |
NM_031955.6(SPATA16):c.53A>G (p.His18Arg) | single nucleotide variant | Globozoospermia [RCV001149782]|not provided [RCV000954251] | Chr3:173117679 [GRCh38] Chr3:172835469 [GRCh37] Chr3:3q26.31 |
benign|uncertain significance |
NM_031955.6(SPATA16):c.736C>T (p.Leu246Phe) | single nucleotide variant | Globozoospermia [RCV001145366]|not provided [RCV000973351] | Chr3:173048971 [GRCh38] Chr3:172766761 [GRCh37] Chr3:3q26.31 |
likely benign|uncertain significance |
NM_031955.6(SPATA16):c.996G>A (p.Ala332=) | single nucleotide variant | Globozoospermia [RCV001145364] | Chr3:172956762 [GRCh38] Chr3:172674552 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.613-13A>G | single nucleotide variant | Globozoospermia [RCV001147308] | Chr3:173049107 [GRCh38] Chr3:172766897 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.*92A>G | single nucleotide variant | Globozoospermia [RCV001148126] | Chr3:172889478 [GRCh38] Chr3:172607268 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1228+275T>C | single nucleotide variant | not provided [RCV001619417] | Chr3:172925071 [GRCh38] Chr3:172642861 [GRCh37] Chr3:3q26.31 |
benign |
NM_031955.6(SPATA16):c.117C>T (p.Asn39=) | single nucleotide variant | Globozoospermia [RCV001149781] | Chr3:173117615 [GRCh38] Chr3:172835405 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.205A>G (p.Ile69Val) | single nucleotide variant | Globozoospermia [RCV001148234]|not specified [RCV004032759] | Chr3:173117527 [GRCh38] Chr3:172835317 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 | copy number gain | not provided [RCV001005487] | Chr3:169617690..190593854 [GRCh37] Chr3:3q26.2-28 |
pathogenic |
NM_031955.6(SPATA16):c.750T>C (p.His250=) | single nucleotide variant | Globozoospermia [RCV001145365] | Chr3:173048957 [GRCh38] Chr3:172766747 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.719G>A (p.Arg240Gln) | single nucleotide variant | Globozoospermia [RCV001145367] | Chr3:173048988 [GRCh38] Chr3:172766778 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.31(chr3:172521399-172794826)x3 | copy number gain | not provided [RCV001259725] | Chr3:172521399..172794826 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.31(chr3:172248537-172772035)x3 | copy number gain | not provided [RCV001827887] | Chr3:172248537..172772035 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3 | copy number gain | not provided [RCV001827868] | Chr3:168118411..179867071 [GRCh37] Chr3:3q26.2-26.33 |
likely pathogenic |
NC_000003.11:g.(?_168802697)_(172835521_?)dup | duplication | Fanconi-Bickel syndrome [RCV003111067] | Chr3:168802697..172835521 [GRCh37] Chr3:3q26.2-26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1320T>G (p.Ile440Met) | single nucleotide variant | not specified [RCV004290479] | Chr3:172924226 [GRCh38] Chr3:172642016 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 | copy number gain | Isolated anorectal malformation [RCV002286610] | Chr3:171558472..197871052 [GRCh37] Chr3:3q26.31-29 |
likely pathogenic |
NM_031955.6(SPATA16):c.454T>G (p.Cys152Gly) | single nucleotide variant | not specified [RCV004121375] | Chr3:173117278 [GRCh38] Chr3:172835068 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1010C>T (p.Ala337Val) | single nucleotide variant | not specified [RCV004104563] | Chr3:172956748 [GRCh38] Chr3:172674538 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1076A>G (p.Tyr359Cys) | single nucleotide variant | not specified [RCV004232472] | Chr3:172956682 [GRCh38] Chr3:172674472 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1451A>C (p.Glu484Ala) | single nucleotide variant | not specified [RCV004134907] | Chr3:172916369 [GRCh38] Chr3:172634159 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.80C>G (p.Thr27Arg) | single nucleotide variant | not specified [RCV004082712] | Chr3:173117652 [GRCh38] Chr3:172835442 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.227A>T (p.Asp76Val) | single nucleotide variant | not specified [RCV004154055] | Chr3:173117505 [GRCh38] Chr3:172835295 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1295G>A (p.Arg432Gln) | single nucleotide variant | not specified [RCV004082119] | Chr3:172924251 [GRCh38] Chr3:172642041 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1600G>A (p.Glu534Lys) | single nucleotide variant | not specified [RCV004247231] | Chr3:172889680 [GRCh38] Chr3:172607470 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1457C>T (p.Ala486Val) | single nucleotide variant | not specified [RCV004077878] | Chr3:172916363 [GRCh38] Chr3:172634153 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1319T>C (p.Ile440Thr) | single nucleotide variant | not specified [RCV004277532] | Chr3:172924227 [GRCh38] Chr3:172642017 [GRCh37] Chr3:3q26.31 |
uncertain significance |
Single allele | duplication | not provided [RCV003448680] | Chr3:140154329..197847235 [GRCh37] Chr3:3q23-29 |
pathogenic |
GRCh37/hg19 3q26.31(chr3:171835889-173764343)x3 | copy number gain | not provided [RCV003484149] | Chr3:171835889..173764343 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.31(chr3:172382427-173592368)x3 | copy number gain | not specified [RCV003986435] | Chr3:172382427..173592368 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1268T>C (p.Val423Ala) | single nucleotide variant | not specified [RCV004460121] | Chr3:172924278 [GRCh38] Chr3:172642068 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.129G>A (p.Met43Ile) | single nucleotide variant | not specified [RCV004460122] | Chr3:173117603 [GRCh38] Chr3:172835393 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1491G>C (p.Gln497His) | single nucleotide variant | not specified [RCV004460124] | Chr3:172916329 [GRCh38] Chr3:172634119 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.980T>G (p.Met327Arg) | single nucleotide variant | not specified [RCV004460126] | Chr3:172956778 [GRCh38] Chr3:172674568 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1307T>C (p.Ile436Thr) | single nucleotide variant | not specified [RCV004460123] | Chr3:172924239 [GRCh38] Chr3:172642029 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1691A>G (p.Gln564Arg) | single nucleotide variant | not specified [RCV004460125] | Chr3:172889589 [GRCh38] Chr3:172607379 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.1246G>T (p.Gly416Cys) | single nucleotide variant | not specified [RCV004328773] | Chr3:172924300 [GRCh38] Chr3:172642090 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.-142G>A | single nucleotide variant | Globozoospermia [RCV000327538] | Chr3:173141226 [GRCh38] Chr3:172859016 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 | copy number gain | See cases [RCV000446611] | Chr3:157128738..181637333 [GRCh37] Chr3:3q25.32-26.33 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 | copy number gain | See cases [RCV000511055] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 | copy number gain | not provided [RCV000742138] | Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_031955.6(SPATA16):c.*157C>T | single nucleotide variant | Globozoospermia [RCV001148124] | Chr3:172889413 [GRCh38] Chr3:172607203 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.31(chr3:172095903-173254604)x3 | copy number gain | not provided [RCV000847729] | Chr3:172095903..173254604 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) | copy number gain | not specified [RCV002053382] | Chr3:157128738..181637333 [GRCh37] Chr3:3q25.32-26.33 |
pathogenic |
NM_031955.6(SPATA16):c.1687C>A (p.Leu563Ile) | single nucleotide variant | not specified [RCV004146010] | Chr3:172889593 [GRCh38] Chr3:172607383 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_031955.6(SPATA16):c.280A>G (p.Arg94Gly) | single nucleotide variant | not specified [RCV004198086] | Chr3:173117452 [GRCh38] Chr3:172835242 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_031955.6(SPATA16):c.1012G>C (p.Asp338His) | single nucleotide variant | not specified [RCV004263184] | Chr3:172956746 [GRCh38] Chr3:172674536 [GRCh37] Chr3:3q26.31 |
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. |
SHGC-154504 |
|
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 | |
High | |||||||||||||||
Medium | 1 | 1 | 1 | 359 | 1 | ||||||||||
Low | 5 | 1 | 9 | 4 | 45 | 4 | 78 | 4 | 5 | 6 | 26 | 15 | 1 | 4 | 7 |
Below cutoff | 467 | 518 | 324 | 92 | 418 | 63 | 721 | 338 | 553 | 135 | 227 | 278 | 29 | 183 | 392 |
RefSeq Acc Id: | ENST00000351008 ⟹ ENSP00000341765 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000652082 ⟹ ENSP00000498213 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_031955 ⟹ NP_114161 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006713778 ⟹ XP_006713841 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017007308 ⟹ XP_016862797 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_054348065 ⟹ XP_054204040 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348066 ⟹ XP_054204041 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NP_114161 ⟸ NM_031955 |
- UniProtKB: | Q0R2V7 (UniProtKB/Swiss-Prot), Q0R2V5 (UniProtKB/Swiss-Prot), Q0R2U9 (UniProtKB/Swiss-Prot), Q0R2U8 (UniProtKB/Swiss-Prot), Q0R2U2 (UniProtKB/Swiss-Prot), Q0R2T7 (UniProtKB/Swiss-Prot), Q0R2T4 (UniProtKB/Swiss-Prot), Q0R2S5 (UniProtKB/Swiss-Prot), Q0R2S4 (UniProtKB/Swiss-Prot), Q0R2S3 (UniProtKB/Swiss-Prot), Q0R2R1 (UniProtKB/Swiss-Prot), Q0R2R0 (UniProtKB/Swiss-Prot), Q0R2N7 (UniProtKB/Swiss-Prot), Q0R2N6 (UniProtKB/Swiss-Prot), Q0R2F8 (UniProtKB/Swiss-Prot), Q0R280 (UniProtKB/Swiss-Prot), Q0R202 (UniProtKB/Swiss-Prot), Q0R1S4 (UniProtKB/Swiss-Prot), Q0R1J6 (UniProtKB/Swiss-Prot), Q0R1I2 (UniProtKB/Swiss-Prot), Q0R1G5 (UniProtKB/Swiss-Prot), Q0R1B8 (UniProtKB/Swiss-Prot), Q0R140 (UniProtKB/Swiss-Prot), Q0R131 (UniProtKB/Swiss-Prot), Q0R129 (UniProtKB/Swiss-Prot), Q0R0W2 (UniProtKB/Swiss-Prot), Q0R0S0 (UniProtKB/Swiss-Prot), Q0R0N4 (UniProtKB/Swiss-Prot), Q8NE67 (UniProtKB/Swiss-Prot), Q9BXB7 (UniProtKB/Swiss-Prot), A0A140VJV8 (UniProtKB/TrEMBL), B3KS78 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006713841 ⟸ XM_006713778 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B3KS78 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016862797 ⟸ XM_017007308 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | ENSP00000498213 ⟸ ENST00000652082 |
RefSeq Acc Id: | ENSP00000341765 ⟸ ENST00000351008 |
RefSeq Acc Id: | XP_054204040 ⟸ XM_054348065 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054204041 ⟸ XM_054348066 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9BXB7-F1-model_v2 | AlphaFold | Q9BXB7 | 1-569 | view protein structure |
RGD ID: | 6866296 | ||||||||
Promoter ID: | EPDNEW_H6313 | ||||||||
Type: | single initiation site | ||||||||
Name: | SPATA16_1 | ||||||||
Description: | spermatogenesis associated 16 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H6314 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6866298 | ||||||||
Promoter ID: | EPDNEW_H6314 | ||||||||
Type: | initiation region | ||||||||
Name: | SPATA16_2 | ||||||||
Description: | spermatogenesis associated 16 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H6313 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:29935 | AgrOrtholog |
COSMIC | SPATA16 | COSMIC |
Ensembl Genes | ENSG00000144962 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000351008 | ENTREZGENE |
ENST00000351008.4 | UniProtKB/Swiss-Prot | |
ENST00000652082.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.25.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000144962 | GTEx |
HGNC ID | HGNC:29935 | ENTREZGENE |
Human Proteome Map | SPATA16 | Human Proteome Map |
InterPro | SPATA16 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:83893 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 83893 | ENTREZGENE |
OMIM | 609856 | OMIM |
PANTHER | PTHR47228 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SPERMATOGENESIS-ASSOCIATED PROTEIN 16 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | NYD-SP12_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA134942358 | PharmGKB |
Superfamily-SCOP | SSF48452 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A140VJV8 | ENTREZGENE, UniProtKB/TrEMBL |
A0A494BZR9_HUMAN | UniProtKB/TrEMBL | |
B3KS78 | ENTREZGENE, UniProtKB/TrEMBL | |
Q0R0N4 | ENTREZGENE | |
Q0R0S0 | ENTREZGENE | |
Q0R0W2 | ENTREZGENE | |
Q0R129 | ENTREZGENE | |
Q0R131 | ENTREZGENE | |
Q0R140 | ENTREZGENE | |
Q0R1B8 | ENTREZGENE | |
Q0R1G5 | ENTREZGENE | |
Q0R1I2 | ENTREZGENE | |
Q0R1J6 | ENTREZGENE | |
Q0R1S4 | ENTREZGENE | |
Q0R202 | ENTREZGENE | |
Q0R280 | ENTREZGENE | |
Q0R2F8 | ENTREZGENE | |
Q0R2N6 | ENTREZGENE | |
Q0R2N7 | ENTREZGENE | |
Q0R2R0 | ENTREZGENE | |
Q0R2R1 | ENTREZGENE | |
Q0R2S3 | ENTREZGENE | |
Q0R2S4 | ENTREZGENE | |
Q0R2S5 | ENTREZGENE | |
Q0R2T4 | ENTREZGENE | |
Q0R2T7 | ENTREZGENE | |
Q0R2U2 | ENTREZGENE | |
Q0R2U8 | ENTREZGENE | |
Q0R2U9 | ENTREZGENE | |
Q0R2V5 | ENTREZGENE | |
Q0R2V7 | ENTREZGENE | |
Q8NE67 | ENTREZGENE | |
Q9BXB7 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | Q0R0N4 | UniProtKB/Swiss-Prot |
Q0R0S0 | UniProtKB/Swiss-Prot | |
Q0R0W2 | UniProtKB/Swiss-Prot | |
Q0R129 | UniProtKB/Swiss-Prot | |
Q0R131 | UniProtKB/Swiss-Prot | |
Q0R140 | UniProtKB/Swiss-Prot | |
Q0R1B8 | UniProtKB/Swiss-Prot | |
Q0R1G5 | UniProtKB/Swiss-Prot | |
Q0R1I2 | UniProtKB/Swiss-Prot | |
Q0R1J6 | UniProtKB/Swiss-Prot | |
Q0R1S4 | UniProtKB/Swiss-Prot | |
Q0R202 | UniProtKB/Swiss-Prot | |
Q0R280 | UniProtKB/Swiss-Prot | |
Q0R2F8 | UniProtKB/Swiss-Prot | |
Q0R2N6 | UniProtKB/Swiss-Prot | |
Q0R2N7 | UniProtKB/Swiss-Prot | |
Q0R2R0 | UniProtKB/Swiss-Prot | |
Q0R2R1 | UniProtKB/Swiss-Prot | |
Q0R2S3 | UniProtKB/Swiss-Prot | |
Q0R2S4 | UniProtKB/Swiss-Prot | |
Q0R2S5 | UniProtKB/Swiss-Prot | |
Q0R2T4 | UniProtKB/Swiss-Prot | |
Q0R2T7 | UniProtKB/Swiss-Prot | |
Q0R2U2 | UniProtKB/Swiss-Prot | |
Q0R2U8 | UniProtKB/Swiss-Prot | |
Q0R2U9 | UniProtKB/Swiss-Prot | |
Q0R2V5 | UniProtKB/Swiss-Prot | |
Q0R2V7 | UniProtKB/Swiss-Prot | |
Q8NE67 | UniProtKB/Swiss-Prot |