Evidence Details for NECAB3
Basic Information Top
| Gene Symbol: | NECAB3 ( APBA2BP,EFCBP3,NIP1,STIP3,SYTIP2,XB51,dJ63M2.4,dJ63M2.5 ) |
|---|---|
| Gene Full Name: | N-terminal EF-hand calcium binding protein 3 |
| Band: | 20q11.22 |
| Quick Links | Entrez ID:63941; OMIM: 612478; Uniprot ID:NECA3_HUMAN; ENSEMBL ID: ENSG00000125967; HGNC ID: 15851 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NECAB3|63941|nucleotide
ATGGCGTGCGCGGGGCTGCTCACCGTGTGCCTGCTCCGGCCGCCCGCGCCCCAGCCCCAGCCCCAGACCCCGCGGCACCCCCAGCTCGCGCCCGACCCGGGGCCC
GCCGGACACACGCTCTTCCAGGACGTTTTCCGCAGAGCAGACAAGAATGATGATGGGAAGCTCTCATTTGAGGAATTCCAGAATTACTTTGCCGATGGGGTTCTC
AGCCTGGGGGAGCTGCAGGAACTGTTCAGCGGCATTGATGGGCATCTCACCGACAATTTAGAAACAGAAAAACTGTGTGACTACTTCTCAGAGCACCTGGGTGTC
TACCGGCCGGTGCTGGCTGCATTGGAATCGCTGAACCGTGCAGTGCTCGCTGCCATGGATGCCACCAAGCTGGAGTACGAGAGGGCCTCCAAAGTGGACCAGTTT
GTGACGCGCTTCCTGCTGCGGGAGACGGTGAGCCAGCTGCAAGCCCTTCAGAGCTCGCTGGAGGGGGCGTCAGATACCCTGGAGGCCCAGGCCCATGGCTGGCGG
TCAGATGCAGAGAGCGTGGAGGCGCAGAGCAGGCTCTGCGGCAGCCGGCGGGCAGGACGCCGAGCCCTGAGGAGTGTCAGCCGGTCATCCACCTGGTCCCCCGGC
TCTTCTGACACAGGGCGCAGCTCAGAGGCCGAGATGCAGTGGCGGCTCCAGGTGAACCGCCTCCAGGAGCTCATCGACCAGCTCGAGTGCAAGGCCCCCCGGCTG
GAACCCCTGCGTGAAGAGGACCTGGCCAAGGGGCCTGACTTGCACATCCTCATGGCCCAGAGGCAGGTCCAGGTGGCAGAGGAAGGCCTGCAGGACTTCCACCGA
GCCCTGCGCTGCTATGTGGACTTCACAGGGGCCCAGAGCCATTGTCTGCATGTGTCCGCCCAGAAGATGCTGGACGGTGCCTCCTTCACCCTGTATGAGTTCTGG
CAGGATGAGGCCTCCTGGAGAAGGCACCAGCAGTCGCCTGGCAGCAAGGCCTTCCAGCGCATCCTCATCGACCACCTGCGGGCCCCGGACACCCTCACCACTGTG
TTCTTCCCAGCCTCCTGGTGGATAATGAATAACAACTGA
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ATGGCGTGCGCGGGGCTGCTCACCGTGTGCCTGCTCCGGCCGCCCGCGCCCCAGCCCCAGCCCCAGACCCCGCGGCACCCCCAGCTCGCGCCCGACCCGGGGCCC
GCCGGACACACGCTCTTCCAGGACGTTTTCCGCAGAGCAGACAAGAATGATGATGGGAAGCTCTCATTTGAGGAATTCCAGAATTACTTTGCCGATGGGGTTCTC
AGCCTGGGGGAGCTGCAGGAACTGTTCAGCGGCATTGATGGGCATCTCACCGACAATTTAGAAACAGAAAAACTGTGTGACTACTTCTCAGAGCACCTGGGTGTC
TACCGGCCGGTGCTGGCTGCATTGGAATCGCTGAACCGTGCAGTGCTCGCTGCCATGGATGCCACCAAGCTGGAGTACGAGAGGGCCTCCAAAGTGGACCAGTTT
GTGACGCGCTTCCTGCTGCGGGAGACGGTGAGCCAGCTGCAAGCCCTTCAGAGCTCGCTGGAGGGGGCGTCAGATACCCTGGAGGCCCAGGCCCATGGCTGGCGG
TCAGATGCAGAGAGCGTGGAGGCGCAGAGCAGGCTCTGCGGCAGCCGGCGGGCAGGACGCCGAGCCCTGAGGAGTGTCAGCCGGTCATCCACCTGGTCCCCCGGC
TCTTCTGACACAGGGCGCAGCTCAGAGGCCGAGATGCAGTGGCGGCTCCAGGTGAACCGCCTCCAGGAGCTCATCGACCAGCTCGAGTGCAAGGCCCCCCGGCTG
GAACCCCTGCGTGAAGAGGACCTGGCCAAGGGGCCTGACTTGCACATCCTCATGGCCCAGAGGCAGGTCCAGGTGGCAGAGGAAGGCCTGCAGGACTTCCACCGA
GCCCTGCGCTGCTATGTGGACTTCACAGGGGCCCAGAGCCATTGTCTGCATGTGTCCGCCCAGAAGATGCTGGACGGTGCCTCCTTCACCCTGTATGAGTTCTGG
CAGGATGAGGCCTCCTGGAGAAGGCACCAGCAGTCGCCTGGCAGCAAGGCCTTCCAGCGCATCCTCATCGACCACCTGCGGGCCCCGGACACCCTCACCACTGTG
TTCTTCCCAGCCTCCTGGTGGATAATGAATAACAACTGA
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>NECAB3|63941|protein
MACAGLLTVCLLRPPAPQPQPQTPRHPQLAPDPGPAGHTLFQDVFRRADKNDDGKLSFEEFQNYFADGVLSLGELQELFSGIDGHLTDNLETEKLCDYFSEHLGV
YRPVLAALESLNRAVLAAMDATKLEYERASKVDQFVTRFLLRETVSQLQALQSSLEGASDTLEAQAHGWRSDAESVEAQSRLCGSRRAGRRALRSVSRSSTWSPG
SSDTGRSSEAEMQWRLQVNRLQELIDQLECKAPRLEPLREEDLAKGPDLHILMAQRQVQVAEEGLQDFHRALRCYVDFTGAQSHCLHVSAQKMLDGASFTLYEFW
QDEASWRRHQQSPGSKAFQRILIDHLRAPDTLTTVFFPASWWIMNNN
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MACAGLLTVCLLRPPAPQPQPQTPRHPQLAPDPGPAGHTLFQDVFRRADKNDDGKLSFEEFQNYFADGVLSLGELQELFSGIDGHLTDNLETEKLCDYFSEHLGV
YRPVLAALESLNRAVLAAMDATKLEYERASKVDQFVTRFLLRETVSQLQALQSSLEGASDTLEAQAHGWRSDAESVEAQSRLCGSRRAGRRALRSVSRSSTWSPG
SSDTGRSSEAEMQWRLQVNRLQELIDQLECKAPRLEPLREEDLAKGPDLHILMAQRQVQVAEEGLQDFHRALRCYVDFTGAQSHCLHVSAQKMLDGASFTLYEFW
QDEASWRRHQQSPGSKAFQRILIDHLRAPDTLTTVFFPASWWIMNNN
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 0 (1) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen |  | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.886302 | Down | 7.8003 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.