Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BNC1 | Human | primary ovarian insufficiency 16 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BNC1 | Human | primary ovarian insufficiency 16 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1332044 | PMID:8034748 | PMID:9099851 | PMID:9151672 | PMID:9223293 | PMID:9687312 | PMID:9727087 | PMID:10449744 | PMID:10462520 | PMID:10524234 | PMID:10839715 | PMID:11076863 |
PMID:11152639 | PMID:11802773 | PMID:12477932 | PMID:15146197 | PMID:15694340 | PMID:16344560 | PMID:16891417 | PMID:19274049 | PMID:19430199 | PMID:20154727 | PMID:20484983 | PMID:20531302 |
PMID:21741828 | PMID:21873635 | PMID:23707421 | PMID:24088737 | PMID:24454902 | PMID:24662832 | PMID:26821013 | PMID:30010909 | PMID:30021884 | PMID:31065688 | PMID:31767620 | PMID:33961781 |
PMID:34148047 | PMID:34644201 | PMID:36198708 |
BNC1 (Homo sapiens - human) |
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Bnc1 (Mus musculus - house mouse) |
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Bnc1 (Rattus norvegicus - Norway rat) |
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Bnc1 (Chinchilla lanigera - long-tailed chinchilla) |
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BNC1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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BNC1 (Canis lupus familiaris - dog) |
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Bnc1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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BNC1 (Sus scrofa - pig) |
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BNC1 (Chlorocebus sabaeus - green monkey) |
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Bnc1 (Heterocephalus glaber - naked mole-rat) |
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Variants in BNC1
59 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3 | copy number gain | See cases [RCV000051826] | Chr15:82558402..84121082 [GRCh38] Chr15:83214012..84789834 [GRCh37] Chr15:81011067..82580838 [NCBI36] Chr15:15q25.2 |
pathogenic |
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] | Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3 |
pathogenic |
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 | copy number gain | See cases [RCV000052347] | Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3 |
pathogenic |
NM_001717.3(BNC1):c.1576G>A (p.Glu526Lys) | single nucleotide variant | Malignant melanoma [RCV000070920] | Chr15:83263675 [GRCh38] Chr15:83932427 [GRCh37] Chr15:81723431 [NCBI36] Chr15:15q25.2 |
not provided |
NM_001717.3(BNC1):c.955C>T (p.His319Tyr) | single nucleotide variant | Malignant melanoma [RCV000070921] | Chr15:83264296 [GRCh38] Chr15:83933048 [GRCh37] Chr15:81724052 [NCBI36] Chr15:15q25.2 |
not provided |
NM_001717.4(BNC1):c.2917C>T (p.Arg973Ter) | single nucleotide variant | Premature ovarian failure 16 [RCV001331894] | Chr15:83257510 [GRCh38] Chr15:83926262 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh38/hg38 15q25.2(chr15:83101364-83291966)x1 | copy number loss | See cases [RCV000137020] | Chr15:83101364..83291966 [GRCh38] Chr15:83770116..83960718 [GRCh37] Chr15:81561120..81751722 [NCBI36] Chr15:15q25.2 |
benign |
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 | copy number gain | See cases [RCV000136849] | Chr15:82859676..101810992 [GRCh38] Chr15:83528428..102351195 [GRCh37] Chr15:81325482..100168718 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1 | copy number loss | See cases [RCV000137052] | Chr15:82560915..85185613 [GRCh38] Chr15:83229665..85728844 [GRCh37] Chr15:81026720..83529848 [NCBI36] Chr15:15q25.2-25.3 |
likely pathogenic|uncertain significance |
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 | copy number gain | See cases [RCV000142915] | Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3 |
pathogenic |
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 | copy number gain | See cases [RCV000143019] | Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1 | copy number loss | See cases [RCV000143125] | Chr15:82627214..85243616 [GRCh38] Chr15:83083418..85786847 [GRCh37] Chr15:80880473..83587851 [NCBI36] Chr15:15q25.2-25.3 |
likely pathogenic |
GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1 | copy number loss | Premature ovarian failure [RCV000225327] | Chr15:83213963..84811815 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 | copy number gain | See cases [RCV000511332] | Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3 |
pathogenic |
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 | copy number gain | See cases [RCV000240602] | Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3 |
pathogenic |
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 | copy number gain | not provided [RCV000415836] | Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3 |
likely pathogenic |
GRCh37/hg19 15q25.1-25.2(chr15:80703867-83955596)x1 | copy number loss | See cases [RCV000446990] | Chr15:80703867..83955596 [GRCh37] Chr15:15q25.1-25.2 |
pathogenic |
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 | copy number gain | See cases [RCV000447123] | Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3 |
pathogenic |
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 | copy number gain | See cases [RCV000445705] | Chr15:80648093..102429112 [GRCh37] Chr15:15q25.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 | copy number gain | See cases [RCV000447765] | Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q25.2(chr15:83679705-84450756)x3 | copy number gain | See cases [RCV000448403] | Chr15:83679705..84450756 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q25.2(chr15:83169558-84847653)x1 | copy number loss | See cases [RCV000510435] | Chr15:83169558..84847653 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 | copy number gain | See cases [RCV000510717] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) | copy number gain | See cases [RCV000512019] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
Single allele | duplication | not provided [RCV000677926] | Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
NM_001717.4(BNC1):c.1831C>A (p.Arg611Ser) | single nucleotide variant | not specified [RCV004320141] | Chr15:83263420 [GRCh38] Chr15:83932172 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1069G>A (p.Val357Met) | single nucleotide variant | not specified [RCV004303309] | Chr15:83264182 [GRCh38] Chr15:83932934 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q25.2(chr15:82606408-84970771)x3 | copy number gain | See cases [RCV000512491] | Chr15:82606408..84970771 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2 | copy number gain | not provided [RCV000683712] | Chr15:79023343..87158823 [GRCh37] Chr15:15q25.1-25.3 |
pathogenic |
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 | copy number gain | not provided [RCV000683703] | Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3 |
pathogenic |
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 | copy number gain | not provided [RCV000683710] | Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
NC_000015.9:g.83214012_84812693del1598682 | deletion | Primary amenorrhea [RCV000754462] | Chr15:83214012..84812693 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 | copy number gain | not provided [RCV000751155] | Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 | copy number gain | not provided [RCV000751156] | Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
NM_001717.4(BNC1):c.1065_1069del (p.Arg356fs) | deletion | Premature ovarian failure 16 [RCV000984865] | Chr15:83264182..83264186 [GRCh38] Chr15:83932934..83932938 [GRCh37] Chr15:15q25.2 |
pathogenic |
NM_001717.4(BNC1):c.2359A>G (p.Ser787Gly) | single nucleotide variant | not provided [RCV000949803] | Chr15:83258068 [GRCh38] Chr15:83926820 [GRCh37] Chr15:15q25.2 |
benign |
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) | copy number loss | not provided [RCV000767759] | Chr15:83883823..92165844 [GRCh37] Chr15:15q25.2-26.1 |
pathogenic |
GRCh37/hg19 15q25.2(chr15:83214012-84772030)x1 | copy number loss | not provided [RCV000856636] | Chr15:83214012..84772030 [GRCh37] Chr15:15q25.2 |
pathogenic |
NM_001717.4(BNC1):c.2284C>T (p.Arg762Cys) | single nucleotide variant | not specified [RCV004300184] | Chr15:83262967 [GRCh38] Chr15:83931719 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q25.2(chr15:82688216-84796779)x1 | copy number loss | not provided [RCV000848551] | Chr15:82688216..84796779 [GRCh37] Chr15:15q25.2 |
pathogenic |
GRCh37/hg19 15q25.2(chr15:82468371-84797068)x3 | copy number gain | not provided [RCV000846337] | Chr15:82468371..84797068 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1 | copy number loss | not provided [RCV000849378] | Chr15:80728654..84107646 [GRCh37] Chr15:15q25.1-25.2 |
pathogenic |
NM_001717.4(BNC1):c.1319G>C (p.Cys440Ser) | single nucleotide variant | not specified [RCV004319056] | Chr15:83263932 [GRCh38] Chr15:83932684 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.576C>T (p.Ser192=) | single nucleotide variant | not provided [RCV000907857] | Chr15:83264675 [GRCh38] Chr15:83933427 [GRCh37] Chr15:15q25.2 |
benign |
GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1 | copy number loss | not provided [RCV001259716] | Chr15:83201955..85786847 [GRCh37] Chr15:15q25.2-25.3 |
pathogenic |
NC_000015.9:g.(?_32964879)_(91358519_?)dup | duplication | Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] | Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1 |
uncertain significance |
NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile) | single nucleotide variant | Premature ovarian failure [RCV001270232] | Chr15:83262978 [GRCh38] Chr15:83931730 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
NM_001717.4(BNC1):c.571C>A (p.Gln191Lys) | single nucleotide variant | not specified [RCV004078112] | Chr15:83264680 [GRCh38] Chr15:83933432 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 | copy number gain | not provided [RCV002475797] | Chr15:77512817..102035027 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
NM_001717.4(BNC1):c.2078C>T (p.Ala693Val) | single nucleotide variant | not specified [RCV004162559] | Chr15:83263173 [GRCh38] Chr15:83931925 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1925T>C (p.Leu642Ser) | single nucleotide variant | Premature ovarian failure 16 [RCV003333808]|not specified [RCV004189999] | Chr15:83263326 [GRCh38] Chr15:83932078 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2155C>T (p.Arg719Cys) | single nucleotide variant | not specified [RCV004111624] | Chr15:83263096 [GRCh38] Chr15:83931848 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1657A>G (p.Ile553Val) | single nucleotide variant | not specified [RCV004089211] | Chr15:83263594 [GRCh38] Chr15:83932346 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1855G>A (p.Gly619Arg) | single nucleotide variant | not specified [RCV004104154] | Chr15:83263396 [GRCh38] Chr15:83932148 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.70C>T (p.Arg24Trp) | single nucleotide variant | not specified [RCV004206711] | Chr15:83284559 [GRCh38] Chr15:83953311 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1753C>T (p.His585Tyr) | single nucleotide variant | not specified [RCV004093086] | Chr15:83263498 [GRCh38] Chr15:83932250 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1966C>T (p.His656Tyr) | single nucleotide variant | not specified [RCV004216110] | Chr15:83263285 [GRCh38] Chr15:83932037 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.680C>G (p.Pro227Arg) | single nucleotide variant | not specified [RCV004140208] | Chr15:83264571 [GRCh38] Chr15:83933323 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.705C>G (p.Asn235Lys) | single nucleotide variant | not specified [RCV004078354] | Chr15:83264546 [GRCh38] Chr15:83933298 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1829A>G (p.His610Arg) | single nucleotide variant | not specified [RCV004210865] | Chr15:83263422 [GRCh38] Chr15:83932174 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.47C>T (p.Ala16Val) | single nucleotide variant | not specified [RCV004069815] | Chr15:83284582 [GRCh38] Chr15:83953334 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1031A>T (p.Lys344Met) | single nucleotide variant | not specified [RCV004178593] | Chr15:83264220 [GRCh38] Chr15:83932972 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1507A>G (p.Asn503Asp) | single nucleotide variant | not specified [RCV004167499] | Chr15:83263744 [GRCh38] Chr15:83932496 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2551A>G (p.Ser851Gly) | single nucleotide variant | not specified [RCV004174318] | Chr15:83257876 [GRCh38] Chr15:83926628 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1821G>T (p.Arg607Ser) | single nucleotide variant | not specified [RCV004131773] | Chr15:83263430 [GRCh38] Chr15:83932182 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.712A>G (p.Ser238Gly) | single nucleotide variant | not specified [RCV004092931] | Chr15:83264539 [GRCh38] Chr15:83933291 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2751G>C (p.Gln917His) | single nucleotide variant | not specified [RCV004094357] | Chr15:83257676 [GRCh38] Chr15:83926428 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.154A>T (p.Asn52Tyr) | single nucleotide variant | not specified [RCV004271574] | Chr15:83268178 [GRCh38] Chr15:83936930 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2030G>A (p.Arg677His) | single nucleotide variant | not specified [RCV004256796] | Chr15:83263221 [GRCh38] Chr15:83931973 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_001717.4(BNC1):c.2468G>C (p.Gly823Ala) | single nucleotide variant | not specified [RCV004260265] | Chr15:83257959 [GRCh38] Chr15:83926711 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1961A>G (p.His654Arg) | single nucleotide variant | not specified [RCV004253502] | Chr15:83263290 [GRCh38] Chr15:83932042 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_001717.4(BNC1):c.2723T>G (p.Ile908Ser) | single nucleotide variant | not specified [RCV004268010] | Chr15:83257704 [GRCh38] Chr15:83926456 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 | copy number gain | not provided [RCV003222839] | Chr15:67358491..91644328 [GRCh37] Chr15:15q22.33-26.1 |
pathogenic |
NM_001717.4(BNC1):c.559G>A (p.Glu187Lys) | single nucleotide variant | not specified [RCV004253287] | Chr15:83264692 [GRCh38] Chr15:83933444 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2857C>T (p.Arg953Trp) | single nucleotide variant | not specified [RCV004285097] | Chr15:83257570 [GRCh38] Chr15:83926322 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2846C>T (p.Thr949Ile) | single nucleotide variant | not specified [RCV004309990] | Chr15:83257581 [GRCh38] Chr15:83926333 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 | copy number gain | See cases [RCV003329502] | Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3 |
pathogenic |
NM_001717.4(BNC1):c.791A>G (p.Tyr264Cys) | single nucleotide variant | not specified [RCV004345345] | Chr15:83264460 [GRCh38] Chr15:83933212 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1433T>C (p.Leu478Pro) | single nucleotide variant | not specified [RCV004346583] | Chr15:83263818 [GRCh38] Chr15:83932570 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2590A>T (p.Met864Leu) | single nucleotide variant | not specified [RCV004355277] | Chr15:83257837 [GRCh38] Chr15:83926589 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.38C>T (p.Ala13Val) | single nucleotide variant | not specified [RCV004342717] | Chr15:83284591 [GRCh38] Chr15:83953343 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2552G>A (p.Ser851Asn) | single nucleotide variant | not specified [RCV004360052] | Chr15:83257875 [GRCh38] Chr15:83926627 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.974C>T (p.Ser325Leu) | single nucleotide variant | not specified [RCV004358644] | Chr15:83264277 [GRCh38] Chr15:83933029 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q25.2(chr15:83220107-84811774)x1 | copy number loss | not provided [RCV003483243] | Chr15:83220107..84811774 [GRCh37] Chr15:15q25.2 |
pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3 | copy number gain | not provided [RCV003485074] | Chr15:83169558..85779567 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
NM_001717.4(BNC1):c.2568G>C (p.Leu856=) | single nucleotide variant | not provided [RCV003400990] | Chr15:83257859 [GRCh38] Chr15:83926611 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_001717.4(BNC1):c.42C>T (p.Ala14=) | single nucleotide variant | not provided [RCV003400991] | Chr15:83284587 [GRCh38] Chr15:83953339 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_001717.4(BNC1):c.1043A>G (p.Asn348Ser) | single nucleotide variant | not provided [RCV003411208] | Chr15:83264208 [GRCh38] Chr15:83932960 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_001717.4(BNC1):c.621_637del (p.Phe207fs) | deletion | Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991643] | Chr15:83264614..83264630 [GRCh38] Chr15:83933366..83933382 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
NM_001717.4(BNC1):c.1874_1875del (p.Pro625fs) | deletion | Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991644] | Chr15:83263376..83263377 [GRCh38] Chr15:83932128..83932129 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
NM_001717.4(BNC1):c.2374C>T (p.Arg792Cys) | single nucleotide variant | not specified [RCV004433978] | Chr15:83258053 [GRCh38] Chr15:83926805 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2968C>G (p.Pro990Ala) | single nucleotide variant | not specified [RCV004433981] | Chr15:83257459 [GRCh38] Chr15:83926211 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.363A>C (p.Gln121His) | single nucleotide variant | not specified [RCV004433982] | Chr15:83266908 [GRCh38] Chr15:83935660 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.625G>A (p.Glu209Lys) | single nucleotide variant | not specified [RCV004433984] | Chr15:83264626 [GRCh38] Chr15:83933378 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1568T>G (p.Ile523Ser) | single nucleotide variant | not specified [RCV004433974] | Chr15:83263683 [GRCh38] Chr15:83932435 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.227T>C (p.Met76Thr) | single nucleotide variant | not specified [RCV004433977] | Chr15:83267044 [GRCh38] Chr15:83935796 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2387T>C (p.Leu796Pro) | single nucleotide variant | not specified [RCV004433979] | Chr15:83258040 [GRCh38] Chr15:83926792 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.566A>G (p.Glu189Gly) | single nucleotide variant | not specified [RCV004433983] | Chr15:83264685 [GRCh38] Chr15:83933437 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.749A>G (p.Asn250Ser) | single nucleotide variant | not specified [RCV004433985] | Chr15:83264502 [GRCh38] Chr15:83933254 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.174A>C (p.Gln58His) | single nucleotide variant | not specified [RCV004433975] | Chr15:83268158 [GRCh38] Chr15:83936910 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2143A>G (p.Ile715Val) | single nucleotide variant | not specified [RCV004433976] | Chr15:83263108 [GRCh38] Chr15:83931860 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2902T>G (p.Ser968Ala) | single nucleotide variant | not specified [RCV004433980] | Chr15:83257525 [GRCh38] Chr15:83926277 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.23G>A (p.Arg8Gln) | single nucleotide variant | not specified [RCV004600573] | Chr15:83284606 [GRCh38] Chr15:83953358 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1831C>G (p.Arg611Gly) | single nucleotide variant | not specified [RCV004600576] | Chr15:83263420 [GRCh38] Chr15:83932172 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.578T>A (p.Ile193Asn) | single nucleotide variant | not specified [RCV004600575] | Chr15:83264673 [GRCh38] Chr15:83933425 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1786G>A (p.Gly596Arg) | single nucleotide variant | not specified [RCV004600577] | Chr15:83263465 [GRCh38] Chr15:83932217 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.1886C>T (p.Thr629Ile) | single nucleotide variant | not specified [RCV004600582] | Chr15:83263365 [GRCh38] Chr15:83932117 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2068A>G (p.Arg690Gly) | single nucleotide variant | not specified [RCV004600579] | Chr15:83263183 [GRCh38] Chr15:83931935 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.784G>A (p.Glu262Lys) | single nucleotide variant | not specified [RCV004600578] | Chr15:83264467 [GRCh38] Chr15:83933219 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.847C>T (p.Pro283Ser) | single nucleotide variant | not specified [RCV004600574] | Chr15:83264404 [GRCh38] Chr15:83933156 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_001717.4(BNC1):c.2117T>C (p.Val706Ala) | single nucleotide variant | not specified [RCV004600581] | Chr15:83263134 [GRCh38] Chr15:83931886 [GRCh37] Chr15:15q25.2 |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D15S670 |
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BNC1__4457 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1197 | 2230 | 2550 | 2001 | 4261 | 1533 | 2046 | 4 | 482 | 905 | 323 | 2203 | 5600 | 5169 | 35 | 3058 | 736 | 1632 | 1464 | 173 | 1 |
RefSeq Transcripts | NM_001301206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001717 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011521893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011521894 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054378620 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054378621 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC103876 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AH005176 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI921950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK302992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN260997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB051299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY045483 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KT585120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L03427 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000345382 ⟹ ENSP00000307041 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000569704 ⟹ ENSP00000456727 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001301206 ⟹ NP_001288135 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001717 ⟹ NP_001708 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011521893 ⟹ XP_011520195 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011521894 ⟹ XP_011520196 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_054378620 ⟹ XP_054234595 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054378621 ⟹ XP_054234596 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001288135 | (Get FASTA) | NCBI Sequence Viewer |
NP_001708 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011520195 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011520196 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054234595 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054234596 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA35584 | (Get FASTA) | NCBI Sequence Viewer |
AAB53028 | (Get FASTA) | NCBI Sequence Viewer | |
BAH13871 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62424 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000307041 | ||
ENSP00000307041.2 | |||
ENSP00000456727 | |||
ENSP00000456727.1 | |||
GenBank Protein | Q01954 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001708 ⟸ NM_001717 |
- Peptide Label: | isoform a |
- UniProtKB: | Q15840 (UniProtKB/Swiss-Prot), Q01954 (UniProtKB/Swiss-Prot), B7Z885 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001288135 ⟸ NM_001301206 |
- Peptide Label: | isoform b |
- UniProtKB: | B7Z885 (UniProtKB/TrEMBL), F5GY04 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011520195 ⟸ XM_011521893 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B7Z885 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011520196 ⟸ XM_011521894 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B7Z885 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000456727 ⟸ ENST00000569704 |
Ensembl Acc Id: | ENSP00000307041 ⟸ ENST00000345382 |
RefSeq Acc Id: | XP_054234595 ⟸ XM_054378620 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054234596 ⟸ XM_054378621 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q01954-F1-model_v2 | AlphaFold | Q01954 | 1-994 | view protein structure |
RGD ID: | 7230375 | ||||||||
Promoter ID: | EPDNEW_H20933 | ||||||||
Type: | initiation region | ||||||||
Name: | BNC1_1 | ||||||||
Description: | basonuclin 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:1081 | AgrOrtholog |
COSMIC | BNC1 | COSMIC |
Ensembl Genes | ENSG00000169594 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000345382 | ENTREZGENE |
ENST00000345382.7 | UniProtKB/Swiss-Prot | |
ENST00000569704 | ENTREZGENE | |
ENST00000569704.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | Classic Zinc Finger | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000169594 | GTEx |
HGNC ID | HGNC:1081 | ENTREZGENE |
Human Proteome Map | BNC1 | Human Proteome Map |
InterPro | Disconnected-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Znf_C2H2_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_C2H2_type | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:646 | UniProtKB/Swiss-Prot |
NCBI Gene | 646 | ENTREZGENE |
OMIM | 601930 | OMIM |
PANTHER | PTHR15021 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ZINC FINGER PROTEIN BASONUCLIN-1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | zf-C2H2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
zf-met | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA25391 | PharmGKB |
PROSITE | PROKAR_LIPOPROTEIN | UniProtKB/TrEMBL |
ZINC_FINGER_C2H2_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ZINC_FINGER_C2H2_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | ZnF_C2H2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF57667 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B7Z885 | ENTREZGENE, UniProtKB/TrEMBL |
BNC1_HUMAN | UniProtKB/Swiss-Prot | |
F5GY04 | ENTREZGENE, UniProtKB/TrEMBL | |
Q01954 | ENTREZGENE | |
Q15840 | ENTREZGENE | |
UniProt Secondary | Q15840 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2023-06-05 | BNC1 | basonuclin zinc finger protein 1 | BNC1 | basonuclin 1 | Symbol and/or name change | 19259463 | PROVISIONAL |