CCDC154 (coiled-coil domain containing 154) - Rat Genome Database

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Gene: CCDC154 (coiled-coil domain containing 154) Homo sapiens
Analyze
Symbol: CCDC154
Name: coiled-coil domain containing 154
RGD ID: 2299193
HGNC Page HGNC:34454
Description: Predicted to be involved in bone mineralization involved in bone maturation. Predicted to act upstream of or within bone resorption; odontogenesis; and sensory perception of sound. Predicted to be located in early endosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C16orf29; chromosome 16 open reading frame 29; coiled-coil domain-containing protein 154
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38161,434,383 - 1,444,556 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,434,383 - 1,444,556 (-)EnsemblGRCh38hg38GRCh38
GRCh37161,484,384 - 1,494,557 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,423,396 - 1,434,858 (-)NCBINCBI36Build 36hg18NCBI36
Celera161,696,988 - 1,707,090 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,410,857 - 1,420,959 (-)NCBIHuRef
CHM1_1161,484,319 - 1,494,490 (-)NCBICHM1_1
T2T-CHM13v2.0161,449,044 - 1,459,216 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
early endosome  (IEA)
endosome  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:21873635   PMID:22895184   PMID:27173435   PMID:29509190   PMID:31586073   PMID:33614666   PMID:37863352  


Genomics

Comparative Map Data
CCDC154
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38161,434,383 - 1,444,556 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,434,383 - 1,444,556 (-)EnsemblGRCh38hg38GRCh38
GRCh37161,484,384 - 1,494,557 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,423,396 - 1,434,858 (-)NCBINCBI36Build 36hg18NCBI36
Celera161,696,988 - 1,707,090 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,410,857 - 1,420,959 (-)NCBIHuRef
CHM1_1161,484,319 - 1,494,490 (-)NCBICHM1_1
T2T-CHM13v2.0161,449,044 - 1,459,216 (-)NCBIT2T-CHM13v2.0
Ccdc154
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391725,381,142 - 25,390,887 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1725,381,435 - 25,390,887 (+)EnsemblGRCm39 Ensembl
GRCm381725,162,175 - 25,171,913 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1725,162,461 - 25,171,913 (+)EnsemblGRCm38mm10GRCm38
MGSCv371725,299,406 - 25,308,858 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361724,890,061 - 24,899,513 (+)NCBIMGSCv36mm8
MGSCv361724,353,464 - 24,362,916 (+)NCBIMGSCv36mm8
Celera1725,692,021 - 25,701,427 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.53NCBI
Ccdc154
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81014,681,938 - 14,691,757 (+)NCBIGRCr8
mRatBN7.21014,177,271 - 14,187,378 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1014,177,278 - 14,187,253 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01014,518,240 - 14,529,920 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1014,519,164 - 14,528,277 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01014,333,873 - 14,343,771 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41014,405,553 - 14,415,281 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1013,849,873 - 13,861,554 (+)NCBICelera
Cytogenetic Map10q12NCBI
Ccdc154
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,793,049 - 15,800,364 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,792,593 - 15,800,410 (+)NCBIChiLan1.0ChiLan1.0
CCDC154
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2181,696,340 - 1,706,659 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1165,483,690 - 5,494,011 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01654,158 - 64,522 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1161,488,751 - 1,498,392 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl161,488,750 - 1,498,293 (-)Ensemblpanpan1.1panPan2
CCDC154
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1639,356,234 - 39,364,053 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl639,357,273 - 39,364,740 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,624,500 - 40,632,188 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0639,702,775 - 39,710,470 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl639,704,510 - 39,710,453 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1639,379,769 - 39,390,268 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0639,352,227 - 39,359,921 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0639,830,637 - 39,838,332 (+)NCBIUU_Cfam_GSD_1.0
Ccdc154
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,233,562 - 104,241,590 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366942,468,281 - 2,475,487 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366942,468,281 - 2,475,901 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC154
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl340,422,892 - 40,429,844 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1340,420,339 - 40,429,787 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2341,885,460 - 41,892,971 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CCDC154
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,323,406 - 1,333,676 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl51,322,933 - 1,333,122 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606829,745,273 - 29,763,693 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc154
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249132,134,780 - 2,141,780 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249132,134,763 - 2,142,446 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC154
70 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 copy number gain See cases [RCV000052369] Chr16:46566..1800860 [GRCh38]
Chr16:96566..1850861 [GRCh37]
Chr16:36566..1790862 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3 copy number gain See cases [RCV000052375] Chr16:1278821..1919148 [GRCh38]
Chr16:1328822..1969149 [GRCh37]
Chr16:1268823..1909150 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 copy number loss See cases [RCV000053251] Chr16:23141..1773349 [GRCh38]
Chr16:73141..1823350 [GRCh37]
Chr16:13141..1763351 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 copy number loss See cases [RCV000053252] Chr16:23141..1712523 [GRCh38]
Chr16:73141..1762524 [GRCh37]
Chr16:13141..1702525 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 copy number loss See cases [RCV000053267] Chr16:105429..1499893 [GRCh38]
Chr16:155427..1549894 [GRCh37]
Chr16:95427..1489895 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1544014)x1 copy number loss See cases [RCV000134917] Chr16:46766..1544014 [GRCh38]
Chr16:96766..1594015 [GRCh37]
Chr16:36766..1534016 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:1257541-1436509)x1 copy number loss See cases [RCV000136187] Chr16:1257541..1436509 [GRCh38]
Chr16:1307542..1486510 [GRCh37]
Chr16:1247543..1426511 [NCBI36]
Chr16:16p13.3
benign
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1 copy number loss See cases [RCV000239415] Chr16:88165..1715454 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:72769-1511716)x1 copy number loss See cases [RCV000240294] Chr16:72769..1511716 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3
uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_001143980.3(CCDC154):c.1458C>A (p.Asp486Glu) single nucleotide variant not specified [RCV004322474] Chr16:1436474 [GRCh38]
Chr16:1486475 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_001143980.3(CCDC154):c.328C>T (p.Arg110Cys) single nucleotide variant not specified [RCV004302214] Chr16:1443592 [GRCh38]
Chr16:1493593 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 copy number loss not provided [RCV000683741] Chr16:85880..1875694 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1498731)x1 copy number loss not provided [RCV000683740] Chr16:85880..1498731 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1383327-1497403)x3 copy number gain not provided [RCV000751508] Chr16:1383327..1497403 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1397815-1499377)x3 copy number gain not provided [RCV000751509] Chr16:1397815..1499377 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1 copy number loss not provided [RCV000751445] Chr16:61451..1593645 [GRCh37]
Chr16:16p13.3
pathogenic
NM_001143980.3(CCDC154):c.377G>A (p.Arg126Gln) single nucleotide variant not specified [RCV004294028] Chr16:1443543 [GRCh38]
Chr16:1493544 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.1157G>A (p.Arg386Gln) single nucleotide variant not specified [RCV004304135] Chr16:1437950 [GRCh38]
Chr16:1487951 [GRCh37]
Chr16:16p13.3
likely benign
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_1203718)_(2185710_?)del deletion Tuberous sclerosis 2 [RCV001033886] Chr16:1203718..2185710 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1233996-1509217)x3 copy number gain not provided [RCV001259760] Chr16:1233996..1509217 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.713G>A (p.Arg238His) single nucleotide variant not specified [RCV004307664] Chr16:1439089 [GRCh38]
Chr16:1489090 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(1843653_?)del deletion Idiopathic generalized epilepsy [RCV003109815] Chr16:256302..1843653 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(1657267_?)del deletion Saldino-Mainzer syndrome [RCV003116765]|not provided [RCV003116766] Chr16:256302..1657267 [GRCh37]
Chr16:16p13.3
pathogenic|no classifications from unflagged records
NC_000016.9:g.(?_256302)_(1918176_?)del deletion not provided [RCV003119703] Chr16:256302..1918176 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3
pathogenic
NM_001143980.3(CCDC154):c.707G>A (p.Ser236Asn) single nucleotide variant not specified [RCV004308766] Chr16:1439095 [GRCh38]
Chr16:1489096 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3 copy number gain not provided [RCV002473769] Chr16:1129080..2021055 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1936G>A (p.Val646Ile) single nucleotide variant not specified [RCV004238268] Chr16:1434476 [GRCh38]
Chr16:1484477 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.832G>A (p.Glu278Lys) single nucleotide variant not specified [RCV004245643] Chr16:1438889 [GRCh38]
Chr16:1488890 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.941A>T (p.Asp314Val) single nucleotide variant not specified [RCV004096370] Chr16:1438703 [GRCh38]
Chr16:1488704 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1826C>T (p.Ala609Val) single nucleotide variant not specified [RCV004178424] Chr16:1434719 [GRCh38]
Chr16:1484720 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.293G>A (p.Arg98Gln) single nucleotide variant not specified [RCV004132509] Chr16:1443627 [GRCh38]
Chr16:1493628 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1693C>T (p.Arg565Cys) single nucleotide variant not specified [RCV004224589] Chr16:1434852 [GRCh38]
Chr16:1484853 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.532G>A (p.Glu178Lys) single nucleotide variant not specified [RCV004176504] Chr16:1442899 [GRCh38]
Chr16:1492900 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1810T>G (p.Phe604Val) single nucleotide variant not specified [RCV004157163] Chr16:1434735 [GRCh38]
Chr16:1484736 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.275G>A (p.Arg92His) single nucleotide variant not specified [RCV004124925] Chr16:1443645 [GRCh38]
Chr16:1493646 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1114G>A (p.Glu372Lys) single nucleotide variant not specified [RCV004164429] Chr16:1438088 [GRCh38]
Chr16:1488089 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.374C>T (p.Ala125Val) single nucleotide variant not specified [RCV004085520] Chr16:1443546 [GRCh38]
Chr16:1493547 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.1201G>A (p.Gly401Arg) single nucleotide variant not specified [RCV004202331] Chr16:1437906 [GRCh38]
Chr16:1487907 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.323G>A (p.Arg108Gln) single nucleotide variant not specified [RCV004159388] Chr16:1443597 [GRCh38]
Chr16:1493598 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1666C>T (p.Leu556Phe) single nucleotide variant not specified [RCV004231183] Chr16:1435115 [GRCh38]
Chr16:1485116 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1802C>T (p.Pro601Leu) single nucleotide variant not specified [RCV004069836] Chr16:1434743 [GRCh38]
Chr16:1484744 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.595C>T (p.Arg199Trp) single nucleotide variant not specified [RCV004094650] Chr16:1442486 [GRCh38]
Chr16:1492487 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1756C>T (p.Arg586Trp) single nucleotide variant not specified [RCV004201389] Chr16:1434789 [GRCh38]
Chr16:1484790 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.827G>C (p.Arg276Pro) single nucleotide variant not specified [RCV004109211] Chr16:1438894 [GRCh38]
Chr16:1488895 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.691C>T (p.Leu231Phe) single nucleotide variant not specified [RCV004196501] Chr16:1439111 [GRCh38]
Chr16:1489112 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1348C>T (p.Arg450Trp) single nucleotide variant not specified [RCV004186359] Chr16:1436754 [GRCh38]
Chr16:1486755 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.184G>A (p.Glu62Lys) single nucleotide variant not specified [RCV004080219] Chr16:1443836 [GRCh38]
Chr16:1493837 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.397G>A (p.Glu133Lys) single nucleotide variant not specified [RCV004232359] Chr16:1443523 [GRCh38]
Chr16:1493524 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1124G>A (p.Arg375Gln) single nucleotide variant not specified [RCV004075541] Chr16:1438078 [GRCh38]
Chr16:1488079 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.376C>T (p.Arg126Trp) single nucleotide variant not specified [RCV004193292] Chr16:1443544 [GRCh38]
Chr16:1493545 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.407C>T (p.Ala136Val) single nucleotide variant not specified [RCV004199226] Chr16:1443513 [GRCh38]
Chr16:1493514 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1540G>A (p.Val514Met) single nucleotide variant not specified [RCV004176069] Chr16:1436034 [GRCh38]
Chr16:1486035 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.791C>T (p.Ser264Leu) single nucleotide variant not specified [RCV004102724] Chr16:1438930 [GRCh38]
Chr16:1488931 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.610G>A (p.Gly204Ser) single nucleotide variant not specified [RCV004090597] Chr16:1442471 [GRCh38]
Chr16:1492472 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.1030G>A (p.Ala344Thr) single nucleotide variant not specified [RCV004187737] Chr16:1438172 [GRCh38]
Chr16:1488173 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.830G>T (p.Gly277Val) single nucleotide variant not specified [RCV004091741] Chr16:1438891 [GRCh38]
Chr16:1488892 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.283C>T (p.Arg95Cys) single nucleotide variant not specified [RCV004096380] Chr16:1443637 [GRCh38]
Chr16:1493638 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.304C>T (p.Arg102Trp) single nucleotide variant not specified [RCV004083609] Chr16:1443616 [GRCh38]
Chr16:1493617 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.161C>T (p.Pro54Leu) single nucleotide variant not specified [RCV004089248] Chr16:1443859 [GRCh38]
Chr16:1493860 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.1588C>G (p.Gln530Glu) single nucleotide variant not specified [RCV004274046] Chr16:1435986 [GRCh38]
Chr16:1485987 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.4T>G (p.Ser2Ala) single nucleotide variant not specified [RCV004256231] Chr16:1444319 [GRCh38]
Chr16:1494320 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1 copy number loss not provided [RCV003222891] Chr16:811896..2130379 [GRCh37]
Chr16:16p13.3
pathogenic
NM_001143980.3(CCDC154):c.1151T>G (p.Leu384Arg) single nucleotide variant not specified [RCV004259159] Chr16:1438051 [GRCh38]
Chr16:1488052 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1072G>A (p.Ala358Thr) single nucleotide variant not specified [RCV004260812] Chr16:1438130 [GRCh38]
Chr16:1488131 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.1898C>G (p.Ser633Cys) single nucleotide variant not specified [RCV004253195] Chr16:1434514 [GRCh38]
Chr16:1484515 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1639G>A (p.Val547Ile) single nucleotide variant not specified [RCV004331186] Chr16:1435142 [GRCh38]
Chr16:1485143 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.997C>T (p.Arg333Cys) single nucleotide variant not specified [RCV004346307] Chr16:1438647 [GRCh38]
Chr16:1488648 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:85881-1657611)x1 copy number loss not provided [RCV003483253] Chr16:85881..1657611 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 copy number gain not provided [RCV003485080] Chr16:1054247..2592737 [GRCh37]
Chr16:16p13.3
likely pathogenic
NM_001143980.3(CCDC154):c.1878-1G>A single nucleotide variant not provided [RCV003395174] Chr16:1434535 [GRCh38]
Chr16:1484536 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.1190C>T (p.Ala397Val) single nucleotide variant not specified [RCV004434907] Chr16:1437917 [GRCh38]
Chr16:1487918 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.13G>T (p.Ala5Ser) single nucleotide variant not specified [RCV004434910] Chr16:1444007 [GRCh38]
Chr16:1494008 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1805G>A (p.Arg602Gln) single nucleotide variant not specified [RCV004434913] Chr16:1434740 [GRCh38]
Chr16:1484741 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.1960G>C (p.Glu654Gln) single nucleotide variant not specified [RCV004434918] Chr16:1434452 [GRCh38]
Chr16:1484453 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.383C>T (p.Ala128Val) single nucleotide variant not specified [RCV004434923] Chr16:1443537 [GRCh38]
Chr16:1493538 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.95G>A (p.Gly32Glu) single nucleotide variant not specified [RCV004434928] Chr16:1443925 [GRCh38]
Chr16:1493926 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.311T>C (p.Leu104Pro) single nucleotide variant not specified [RCV004434921] Chr16:1443609 [GRCh38]
Chr16:1493610 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1403C>G (p.Pro468Arg) single nucleotide variant not specified [RCV004434911] Chr16:1436699 [GRCh38]
Chr16:1486700 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1082A>G (p.Gln361Arg) single nucleotide variant not specified [RCV004434905] Chr16:1438120 [GRCh38]
Chr16:1488121 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.122G>T (p.Ser41Ile) single nucleotide variant not specified [RCV004434908] Chr16:1443898 [GRCh38]
Chr16:1493899 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1381C>T (p.Arg461Trp) single nucleotide variant not specified [RCV004434909] Chr16:1436721 [GRCh38]
Chr16:1486722 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1871C>T (p.Ala624Val) single nucleotide variant not specified [RCV004434915] Chr16:1434674 [GRCh38]
Chr16:1484675 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.365A>G (p.Gln122Arg) single nucleotide variant not specified [RCV004434922] Chr16:1443555 [GRCh38]
Chr16:1493556 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.614C>T (p.Ala205Val) single nucleotide variant not specified [RCV004434925] Chr16:1442467 [GRCh38]
Chr16:1492468 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1169G>A (p.Arg390Gln) single nucleotide variant not specified [RCV004434906] Chr16:1437938 [GRCh38]
Chr16:1487939 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.1644G>T (p.Gln548His) single nucleotide variant not specified [RCV004434912] Chr16:1435137 [GRCh38]
Chr16:1485138 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1886G>A (p.Arg629His) single nucleotide variant not specified [RCV004434916] Chr16:1434526 [GRCh38]
Chr16:1484527 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1922G>A (p.Arg641Gln) single nucleotide variant not specified [RCV004434917] Chr16:1434490 [GRCh38]
Chr16:1484491 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.290C>T (p.Thr97Met) single nucleotide variant not specified [RCV004434920] Chr16:1443630 [GRCh38]
Chr16:1493631 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.544G>A (p.Gly182Ser) single nucleotide variant not specified [RCV004434924] Chr16:1442887 [GRCh38]
Chr16:1492888 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.878G>A (p.Arg293His) single nucleotide variant not specified [RCV004434926] Chr16:1438843 [GRCh38]
Chr16:1488844 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.944C>T (p.Ala315Val) single nucleotide variant not specified [RCV004434927] Chr16:1438700 [GRCh38]
Chr16:1488701 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(1557737_?)del deletion not provided [RCV004582850] Chr16:256302..1557737 [GRCh37]
Chr16:16p13.3
pathogenic
NM_001143980.3(CCDC154):c.452A>G (p.Lys151Arg) single nucleotide variant not specified [RCV004602945] Chr16:1443264 [GRCh38]
Chr16:1493265 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_339420)_(3767509_?)dup duplication Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] Chr16:339420..3767509 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.150G>T (p.Glu50Asp) single nucleotide variant not specified [RCV004602944] Chr16:1443870 [GRCh38]
Chr16:1493871 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1804C>T (p.Arg602Trp) single nucleotide variant not specified [RCV004602943] Chr16:1434741 [GRCh38]
Chr16:1484742 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1247G>A (p.Arg416Gln) single nucleotide variant not specified [RCV004602950] Chr16:1437860 [GRCh38]
Chr16:1487861 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.18C>G (p.Asp6Glu) single nucleotide variant not specified [RCV004602947] Chr16:1444002 [GRCh38]
Chr16:1494003 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.284G>A (p.Arg95His) single nucleotide variant not specified [RCV004602948] Chr16:1443636 [GRCh38]
Chr16:1493637 [GRCh37]
Chr16:16p13.3
likely benign
NM_001143980.3(CCDC154):c.1310G>A (p.Gly437Asp) single nucleotide variant not specified [RCV004602949] Chr16:1436792 [GRCh38]
Chr16:1486793 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.521G>A (p.Arg174Lys) single nucleotide variant not specified [RCV004602951] Chr16:1442910 [GRCh38]
Chr16:1492911 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001143980.3(CCDC154):c.1870G>T (p.Ala624Ser) single nucleotide variant not specified [RCV004602946] Chr16:1434675 [GRCh38]
Chr16:1484676 [GRCh37]
Chr16:16p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1493
Count of miRNA genes:520
Interacting mature miRNAs:580
Transcripts:ENST00000389176, ENST00000409671, ENST00000463299, ENST00000483702
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407138194GWAS787170_H3-hydroxy-1-methylpropylmercapturic acid measurement QTL GWAS787170 (human)0.0000033-hydroxy-1-methylpropylmercapturic acid measurement1614344541434455Human
407174364GWAS823340_Hblood protein measurement QTL GWAS823340 (human)1e-115blood protein measurementblood protein measurement (CMO:0000028)1614428591442860Human
406965051GWAS614027_HCOVID-19 QTL GWAS614027 (human)0.0000001COVID-191614386451438646Human

Markers in Region
RH102989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,495,016 - 1,495,172UniSTSGRCh37
Build 36161,435,017 - 1,435,173RGDNCBI36
Celera161,707,616 - 1,707,772RGD
Cytogenetic Map16p13UniSTS
Cytogenetic Map16p13.3UniSTS
HuRef161,421,485 - 1,421,642UniSTS
GeneMap99-GB4 RH Map1645.13UniSTS
RH12098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,495,345 - 1,495,473UniSTSGRCh37
Build 36161,435,346 - 1,435,474RGDNCBI36
Celera161,707,945 - 1,708,073RGD
Cytogenetic Map16p13UniSTS
Cytogenetic Map16p13.3UniSTS
HuRef161,421,815 - 1,421,943UniSTS
GeneMap99-GB4 RH Map1645.24UniSTS
A005U10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,495,345 - 1,495,532UniSTSGRCh37
Build 36161,435,346 - 1,435,533RGDNCBI36
Celera161,707,945 - 1,708,132RGD
Cytogenetic Map16p13UniSTS
Cytogenetic Map16p13.3UniSTS
HuRef161,421,815 - 1,422,002UniSTS
GeneMap99-GB4 RH Map1641.22UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
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 2420 2787 2243 4932 1714 2329 4 613 1860 455 2261 7169 6364 51 3705 841 1724 1604 169

Sequence


Ensembl Acc Id: ENST00000389176   ⟹   ENSP00000373828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,434,383 - 1,444,556 (-)Ensembl
Ensembl Acc Id: ENST00000409671   ⟹   ENSP00000386744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,434,388 - 1,444,556 (-)Ensembl
Ensembl Acc Id: ENST00000463299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,434,388 - 1,435,308 (-)Ensembl
Ensembl Acc Id: ENST00000483702   ⟹   ENSP00000456484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,434,383 - 1,437,903 (-)Ensembl
RefSeq Acc Id: NM_001143980   ⟹   NP_001137452
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,434,383 - 1,444,556 (-)NCBI
GRCh37161,484,389 - 1,494,490 (-)RGD
Celera161,696,988 - 1,707,090 (-)RGD
HuRef161,410,857 - 1,420,959 (-)ENTREZGENE
CHM1_1161,484,319 - 1,494,490 (-)NCBI
T2T-CHM13v2.0161,449,044 - 1,459,216 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054313689   ⟹   XP_054169664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,449,044 - 1,459,216 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001137452 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169664 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6NI56 (Get FASTA)   NCBI Sequence Viewer  
  AEW67365 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000373828
  ENSP00000373828.4
  ENSP00000386744.1
  ENSP00000456484.1
RefSeq Acc Id: NP_001137452   ⟸   NM_001143980
- UniProtKB: G9JV18 (UniProtKB/Swiss-Prot),   A6NI56 (UniProtKB/Swiss-Prot),   A0A590PWR5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000373828   ⟸   ENST00000389176
Ensembl Acc Id: ENSP00000456484   ⟸   ENST00000483702
Ensembl Acc Id: ENSP00000386744   ⟸   ENST00000409671
RefSeq Acc Id: XP_054169664   ⟸   XM_054313689
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NI56-F1-model_v2 AlphaFold A6NI56 1-667 view protein structure

Promoters
RGD ID:6792904
Promoter ID:HG_KWN:22700
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:ENST00000389176,   ENST00000409671,   NM_001143980
Position:
Human AssemblyChrPosition (strand)Source
Build 36161,435,066 - 1,435,566 (-)MPROMDB
RGD ID:7230905
Promoter ID:EPDNEW_H21198
Type:initiation region
Name:CCDC154_1
Description:coiled-coil domain containing 154
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,444,514 - 1,444,574EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34454 AgrOrtholog
COSMIC CCDC154 COSMIC
Ensembl Genes ENSG00000197599 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000389176 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000389176.4 UniProtKB/Swiss-Prot
  ENST00000409671.5 UniProtKB/TrEMBL
  ENST00000483702.5 UniProtKB/TrEMBL
GTEx ENSG00000197599 GTEx
HGNC ID HGNC:34454 ENTREZGENE
Human Proteome Map CCDC154 Human Proteome Map
InterPro CCDC154 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:645811 UniProtKB/Swiss-Prot
NCBI Gene 645811 ENTREZGENE
OMIM 618740 OMIM
PANTHER COILED-COIL DOMAIN-CONTAINING PROTEIN 154 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR35153 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CCDC154 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162381640 PharmGKB
UniProt A0A590PWR5 ENTREZGENE, UniProtKB/TrEMBL
  A6NI56 ENTREZGENE
  B7ZBA8_HUMAN UniProtKB/TrEMBL
  CC154_HUMAN UniProtKB/Swiss-Prot
  G9JV18 ENTREZGENE
  H3BS06_HUMAN UniProtKB/TrEMBL
UniProt Secondary G9JV18 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 CCDC154  coiled-coil domain containing 154  C16orf29  chromosome 16 open reading frame 29  Data merged from RGD:1349511 737654 PROVISIONAL