AutismKB 2.0

Annotation Detail for MAD1L1


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Basic Information Top
Gene Symbol:MAD1L1 ( MAD1,PIG9,TP53I9,TXBP181 )
Gene Full Name: MAD1 mitotic arrest deficient-like 1 (yeast)
Band: 7p22.3
Quick LinksEntrez ID:8379; OMIM: 602686; Uniprot ID:MD1L1_HUMAN; ENSEMBL ID: ENSG00000002822; HGNC ID: 6762
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
16Phosphoserine.
61N6-acetyllysine.
214Phosphoserine.
428Phosphoserine.
Location(AA) Modifications Resource
428Phosphoserine.Swiss-Prot 53.0
428PhosphoserinePhospho.ELM 6.0
428PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
90Phosphoserine(PKG)HMM predict
90Phosphoserine(PKB)HMM predict
151Phosphoserine(CK1)HMM predict
233Phosphoserine(PKG)HMM predict
389Phosphothreonine(PKA)HMM predict
482Phosphoserine(ATM)HMM predict
484Phosphoserine(CK2)HMM predict
485Phosphoserine(CK2)HMM predict
486Phosphoserine(IKK)HMM predict
548N-linkedHMM predict
562Phosphoserine(ATM)HMM predict
594Phosphoserine(IKK)HMM predict
597Phosphoserine(CK1)HMM predict
669Phosphoserine(IKK)HMM predict
669Phosphoserine(CDC2)HMM predict
669Phosphoserine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001013836
  • Location:chr7 1821953-2239108
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 2238875 2239765 890 212
hScc1 BcellGSE12603 2239065 2239284 219 66
p130 SenescentGSE19898 2238877 2239464 587 62
p130 shRbSenescentGSE19898 2238808 2239427 619 9
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 1818636 1818759 123 3256
CTCF CD4SISSRdata 1818636 1818759 123 3256
CTCF G2GSE9613 1815998 1816335 337 5787
CTCF G2GSE9613 1817625 1817994 369 4144
CTCF G2GSE9613 1818710 1822256 3546 1471
p63 keratinocytesGSE17611 1817572 1818808 1236 3764
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 1946047 1947649 1602 0
CBP T30-glioblastomaGSE21026 1946001 1947344 1343 0
CBP T30-glioblastomaGSE21026 2163561 2164467 906 0
CTCF CD4GSE12889 1994097 1994333 236 0
CTCF CD4GSE12889 2110473 2110770 297 0
CTCF CD4GSE12889 2201265 2201474 209 0
CTCF CD4GSE12889 2215722 2216004 282 0
CTCF CD4SISSRdata 1994097 1994333 236 0
CTCF CD4SISSRdata 2110473 2110770 297 0
CTCF CD4SISSRdata 2201265 2201474 209 0
CTCF CD4SISSRdata 2215722 2216004 282 0
CTCF G2GSE9613 1822792 1823096 304 0
CTCF G2GSE9613 1823773 1824225 452 0
CTCF G2GSE9613 1824861 1825183 322 0
CTCF G2GSE9613 1829642 1830573 931 0
CTCF G2GSE9613 1831283 1833452 2169 0
CTCF G2GSE9613 1843963 1844248 285 0
CTCF G2GSE9613 1845080 1845410 330 0
CTCF G2GSE9613 1845843 1846567 724 0
CTCF G2GSE9613 1847585 1848051 466 0
CTCF G2GSE9613 1848479 1848902 423 0
CTCF G2GSE9613 1850294 1851066 772 0
CTCF G2GSE9613 1852275 1853029 754 0
CTCF G2GSE9613 1854347 1855915 1568 0
CTCF G2GSE9613 1856466 1856981 515 0
CTCF G2GSE9613 1857294 1858580 1286 0
CTCF G2GSE9613 1859078 1859965 887 0
CTCF G2GSE9613 1862685 1863989 1304 0
CTCF G2GSE9613 1864441 1865497 1056 0
CTCF G2GSE9613 1866846 1867983 1137 0
CTCF G2GSE9613 1869513 1869942 429 0
CTCF G2GSE9613 1871920 1873581 1661 0
CTCF G2GSE9613 1873938 1874352 414 0
CTCF G2GSE9613 1874874 1878793 3919 0
CTCF G2GSE9613 1879356 1880595 1239 0
CTCF G2GSE9613 1881005 1881892 887 0
CTCF G2GSE9613 1882279 1883199 920 0
CTCF G2GSE9613 1886485 1886801 316 0
CTCF G2GSE9613 1888099 1889064 965 0
CTCF G2GSE9613 1889629 1891030 1401 0
CTCF G2GSE9613 1891725 1893375 1650 0
CTCF G2GSE9613 1895039 1896340 1301 0
CTCF G2GSE9613 1896791 1897309 518 0
CTCF G2GSE9613 1900487 1901223 736 0
CTCF G2GSE9613 1901874 1902285 411 0
CTCF G2GSE9613 1903296 1905180 1884 0
CTCF G2GSE9613 1906042 1906436 394 0
CTCF G2GSE9613 1907552 1908379 827 0
CTCF G2GSE9613 1909362 1909526 164 0
CTCF G2GSE9613 1912237 1913201 964 0
CTCF G2GSE9613 1915077 1916762 1685 0
CTCF G2GSE9613 1917022 1918033 1011 0
CTCF G2GSE9613 1918412 1919075 663 0
CTCF G2GSE9613 1919967 1920396 429 0
CTCF G2GSE9613 1921604 1921831 227 0
CTCF G2GSE9613 1922948 1926479 3531 0
CTCF G2GSE9613 1929411 1929921 510 0
CTCF G2GSE9613 1934256 1935431 1175 0
CTCF G2GSE9613 1936773 1937516 743 0
CTCF G2GSE9613 1938048 1938493 445 0
CTCF G2GSE9613 1940257 1940689 432 0
CTCF G2GSE9613 1941277 1941661 384 0
CTCF G2GSE9613 1942719 1944585 1866 0
CTCF G2GSE9613 1945232 1946242 1010 0
CTCF G2GSE9613 1946697 1946867 170 0
CTCF G2GSE9613 1947224 1947422 198 0
CTCF G2GSE9613 1947759 1948035 276 0
CTCF G2GSE9613 1950987 1951330 343 0
CTCF G2GSE9613 1951573 1952370 797 0
CTCF G2GSE9613 1953000 1953689 689 0
CTCF G2GSE9613 1954412 1955185 773 0
CTCF G2GSE9613 1956174 1957274 1100 0
CTCF G2GSE9613 1958263 1961310 3047 0
CTCF G2GSE9613 1962491 1963845 1354 0
CTCF G2GSE9613 1964193 1964335 142 0
CTCF G2GSE9613 1971019 1971821 802 0
CTCF G2GSE9613 1973893 1974097 204 0
CTCF G2GSE9613 1974452 1974785 333 0
CTCF G2GSE9613 1979557 1980433 876 0
CTCF G2GSE9613 1981444 1982340 896 0
CTCF G2GSE9613 1983864 1985173 1309 0
CTCF G2GSE9613 1985766 1986672 906 0
CTCF G2GSE9613 1993119 1993559 440 0
CTCF G2GSE9613 1993815 1996069 2254 0
CTCF G2GSE9613 1996465 1996621 156 0
CTCF G2GSE9613 1996914 1998488 1574 0
CTCF G2GSE9613 2000074 2000731 657 0
CTCF G2GSE9613 2001437 2002827 1390 0
CTCF G2GSE9613 2003462 2004113 651 0
CTCF G2GSE9613 2004445 2005385 940 0
CTCF G2GSE9613 2005637 2006601 964 0
CTCF G2GSE9613 2007261 2011442 4181 0
CTCF G2GSE9613 2012008 2012445 437 0
CTCF G2GSE9613 2012960 2013451 491 0
CTCF G2GSE9613 2014266 2016099 1833 0
CTCF G2GSE9613 2017625 2018878 1253 0
CTCF G2GSE9613 2019153 2020845 1692 0
CTCF G2GSE9613 2021263 2021834 571 0
CTCF G2GSE9613 2022344 2022701 357 0
CTCF G2GSE9613 2023993 2025545 1552 0
CTCF G2GSE9613 2026026 2026789 763 0
CTCF G2GSE9613 2035769 2036323 554 0
CTCF G2GSE9613 2037856 2038356 500 0
CTCF G2GSE9613 2038833 2039587 754 0
CTCF G2GSE9613 2041162 2043101 1939 0
CTCF G2GSE9613 2049545 2051455 1910 0
CTCF G2GSE9613 2054064 2054363 299 0
CTCF G2GSE9613 2055578 2056806 1228 0
CTCF G2GSE9613 2057515 2057977 462 0
CTCF G2GSE9613 2058264 2058659 395 0
CTCF G2GSE9613 2059032 2059322 290 0
CTCF G2GSE9613 2059906 2060366 460 0
CTCF G2GSE9613 2060948 2061539 591 0
CTCF G2GSE9613 2069839 2071801 1962 0
CTCF G2GSE9613 2072325 2074210 1885 0
CTCF G2GSE9613 2074739 2075665 926 0
CTCF G2GSE9613 2076481 2076718 237 0
CTCF G2GSE9613 2078498 2079263 765 0
CTCF G2GSE9613 2079933 2081534 1601 0
CTCF G2GSE9613 2082003 2082345 342 0
CTCF G2GSE9613 2082841 2085233 2392 0
CTCF G2GSE9613 2087107 2087430 323 0
CTCF G2GSE9613 2088386 2088848 462 0
CTCF G2GSE9613 2089607 2089902 295 0
CTCF G2GSE9613 2092120 2092375 255 0
CTCF G2GSE9613 2095047 2095334 287 0
CTCF G2GSE9613 2099885 2100288 403 0
CTCF G2GSE9613 2100612 2100885 273 0
CTCF G2GSE9613 2101840 2102304 464 0
CTCF G2GSE9613 2103217 2105420 2203 0
CTCF G2GSE9613 2106193 2106966 773 0
CTCF G2GSE9613 2107903 2108035 132 0
CTCF G2GSE9613 2108988 2109997 1009 0
CTCF G2GSE9613 2110258 2112269 2011 0
CTCF G2GSE9613 2112948 2113650 702 0
CTCF G2GSE9613 2115059 2115377 318 0
CTCF G2GSE9613 2116936 2117423 487 0
CTCF G2GSE9613 2121041 2121853 812 0
CTCF G2GSE9613 2122147 2123567 1420 0
CTCF G2GSE9613 2123955 2128035 4080 0
CTCF G2GSE9613 2128784 2129147 363 0
CTCF G2GSE9613 2130099 2131903 1804 0
CTCF G2GSE9613 2133477 2133873 396 0
CTCF G2GSE9613 2135006 2135883 877 0
CTCF G2GSE9613 2137729 2137988 259 0
CTCF G2GSE9613 2142626 2143153 527 0
CTCF G2GSE9613 2143821 2144174 353 0
CTCF G2GSE9613 2145141 2145819 678 0
CTCF G2GSE9613 2146313 2146817 504 0
CTCF G2GSE9613 2147893 2149384 1491 0
CTCF G2GSE9613 2149790 2151434 1644 0
CTCF G2GSE9613 2151899 2153845 1946 0
CTCF G2GSE9613 2154271 2154767 496 0
CTCF G2GSE9613 2156042 2156845 803 0
CTCF G2GSE9613 2157462 2157816 354 0
CTCF G2GSE9613 2158429 2158671 242 0
CTCF G2GSE9613 2160880 2161378 498 0
CTCF G2GSE9613 2163579 2163907 328 0
CTCF G2GSE9613 2164447 2165527 1080 0
CTCF G2GSE9613 2171566 2171865 299 0
CTCF G2GSE9613 2172684 2173401 717 0
CTCF G2GSE9613 2174975 2175130 155 0
CTCF G2GSE9613 2175788 2178105 2317 0
CTCF G2GSE9613 2178551 2179146 595 0
CTCF G2GSE9613 2197404 2197592 188 0
CTCF G2GSE9613 2199757 2200072 315 0
CTCF G2GSE9613 2201994 2202421 427 0
CTCF G2GSE9613 2202918 2204963 2045 0
CTCF G2GSE9613 2205906 2207204 1298 0
CTCF G2GSE9613 2207948 2208724 776 0
CTCF G2GSE9613 2214822 2216222 1400 0
CTCF G2GSE9613 2216597 2217735 1138 0
CTCF G2GSE9613 2218256 2218513 257 0
CTCF G2GSE9613 2219092 2219423 331 0
CTCF G2GSE9613 2219686 2220957 1271 0
CTCF G2GSE9613 2221939 2222144 205 0
CTCF G2GSE9613 2222947 2224472 1525 0
CTCF G2GSE9613 2225632 2227739 2107 0
CTCF G2GSE9613 2228659 2228998 339 0
CTCF G2GSE9613 2229255 2229572 317 0
CTCF G2GSE9613 2230301 2231170 869 0
CTCF G2GSE9613 2231603 2231930 327 0
CTCF G2GSE9613 2233818 2234390 572 0
CTCF G2GSE9613 2238412 2239391 979 0
ER Breast-CancerGSE22609 1971857 1972464 607 0
ER Breast-CancerGSE22609 2209911 2210340 429 0
ER MCF7GSE19013 1890738 1891313 575 0
ER MCF7GSE19013 1942472 1943459 987 0
ER MCF7GSE19013 2069672 2070263 591 0
ER MCF7GSE19013 2157986 2158474 488 0
ETS1 JurkatGSE17954 1946488 1947296 808 0
ETS1 JurkatGSE17954 2072472 2073185 713 0
ETS1 JurkatGSE17954 2144286 2144916 630 0
FOXA1 MCF7GSE15244 1925943 1926672 729 0
FOXA1 MCF7GSE15244 1934150 1935431 1281 0
FOXA1 MCF7GSE15244 2066193 2066913 720 0
FOXA1 MCF7GSE15244 2163618 2164765 1147 0
FOXA1 MCF7GSE15244 2178551 2179172 621 0
Fos K562GSE19551 2171333 2171686 353 0
GABP k562GSE8489 1876235 1877922 1687 0
GABP k562GSE8489 1940548 1940689 141 0
GABP k562GSE8489 2026789 2027119 330 0
Gata1 K562GSE18868 1862370 1863162 792 0
Gata2 K562GSE18868 1862307 1863238 931 0
Gata2 K562GSE18868 2028981 2029584 603 0
Gata2 K562GSE18868 2115859 2116672 813 0
H3ac HepG2E 2041199 2042455 1256 0
H3ac HepG2E 2238208 2238520 312 0
Myc K562GSE19551 2110138 2111190 1052 0
Myc K562GSE19551 2171369 2171686 317 0
NFkBII GM12878GSE19485 1967419 1968915 1496 0
NFkBII GM12878GSE19485 2215429 2216625 1196 0
NFkBII GM15510GSE19485 2077805 2078860 1055 0
NRSF mAbJurkat 1888918 1889594 676 0
NRSF mAbJurkat 2171566 2171821 255 0
NRSF mAbJurkat 2219686 2220182 496 0
NRSF pAbJurkat 1862860 1863789 929 0
NRSF pAbJurkat 1875961 1878024 2063 0
NRSF pAbJurkat 1891899 1892306 407 0
NRSF pAbJurkat 1942757 1944585 1828 0
NRSF pAbJurkat 1945232 1945585 353 0
NRSF pAbJurkat 2004839 2005260 421 0
NRSF pAbJurkat 2014654 2015956 1302 0
NRSF pAbJurkat 2108988 2109997 1009 0
NRSF pAbJurkat 2111871 2112345 474 0
Nanog hESGSE18292 2114662 2114847 185 0
Oct4 hESGSE17917 1838697 1838860 163 0
P300 T0-glioblastomaGSE21026 2163523 2164381 858 0
P300 T30-glioblastomaGSE21026 1889055 1890169 1114 0
P300 T30-glioblastomaGSE21026 2116390 2117098 708 0
P300 T30-glioblastomaGSE21026 2163488 2164350 862 0
PHF8 HeLaGSE20725 2238313 2239715 1402 0
RARA MCF7GSE15244 1908825 1911891 3066 0
RUNX JurkatGSE17954 1967868 1968413 545 0
Rb GrowingGSE19898 1905381 1905762 381 0
Rb GrowingGSE19898 2011013 2011214 201 0
Rb QuiescentGSE19898 2120173 2120559 386 0
Rb QuiescentGSE19898 2176331 2176502 171 0
Rb SenescentGSE19898 1905402 1905803 401 0
Rb SenescentGSE19898 2120315 2120593 278 0
Rb shRbSenescenceGSE19898 2025019 2025279 260 0
STAT1 HeLaGSE12782 2100224 2101401 1177 0
STAT1 IFNSISSRdata 2100665 2101192 527 0
Sox2 hESGSE18292 2201270 2201492 222 0
Stat6 IL-4-hr1GSE17850 1908462 1908999 537 0
TAF HelaGSE8489 1875989 1877848 1859 0
TAF HelaGSE8489 2062174 2062530 356 0
TAF HelaGSE8489 2235847 2236588 741 0
TFAP2C MCF7GSE21234 1822826 1823229 403 0
TFAP2C MCF7GSE21234 1889277 1890070 793 0
TFAP2C MCF7GSE21234 1925679 1926854 1175 0
TFAP2C MCF7GSE21234 1945452 1946148 696 0
TFAP2C MCF7GSE21234 1946271 1947159 888 0
TFAP2C MCF7GSE21234 1954349 1954873 524 0
TFAP2C MCF7GSE21234 1976121 1976387 266 0
TFAP2C MCF7GSE21234 2069656 2070465 809 0
TFAP2C MCF7GSE21234 2121991 2122729 738 0
TFAP2C MCF7GSE21234 2127537 2128142 605 0
TFAP2C MCF7GSE21234 2157504 2158613 1109 0
TFAP2C MCF7GSE21234 2175869 2176744 875 0
USF1 HepG2E 1881714 1881892 178 0
USF1 HepG2E 1882279 1882785 506 0
USF1 HepG2E 2168791 2169149 358 0
USF2 HepG2E 1881649 1881892 243 0
USF2 HepG2E 1882279 1882604 325 0
VDR GM10861-stimGSE22484 1932143 1933815 1672 0
hScc1 BcellGSE12603 1823737 1824426 689 0
hScc1 BcellGSE12603 1855453 1855953 500 0
hScc1 BcellGSE12603 1876421 1877922 1501 0
hScc1 BcellGSE12603 1895039 1895200 161 0
hScc1 BcellGSE12603 1904129 1904999 870 0
hScc1 BcellGSE12603 1908825 1909862 1037 0
hScc1 BcellGSE12603 1910180 1910524 344 0
hScc1 BcellGSE12603 1912237 1912656 419 0
hScc1 BcellGSE12603 1914133 1914351 218 0
hScc1 BcellGSE12603 1915187 1916196 1009 0
hScc1 BcellGSE12603 1923989 1924590 601 0
hScc1 BcellGSE12603 1943795 1944236 441 0
hScc1 BcellGSE12603 1946369 1946867 498 0
hScc1 BcellGSE12603 1948402 1948741 339 0
hScc1 BcellGSE12603 1954439 1954605 166 0
hScc1 BcellGSE12603 1958365 1958746 381 0
hScc1 BcellGSE12603 1974485 1974785 300 0
hScc1 BcellGSE12603 1996465 1998415 1950 0
hScc1 BcellGSE12603 2006324 2006695 371 0
hScc1 BcellGSE12603 2021300 2021693 393 0
hScc1 BcellGSE12603 2022454 2022802 348 0
hScc1 BcellGSE12603 2024571 2024935 364 0
hScc1 BcellGSE12603 2025378 2025545 167 0
hScc1 BcellGSE12603 2036211 2036530 319 0
hScc1 BcellGSE12603 2041528 2042342 814 0
hScc1 BcellGSE12603 2078498 2078698 200 0
hScc1 BcellGSE12603 2088808 2089100 292 0
hScc1 BcellGSE12603 2105851 2106869 1018 0
hScc1 BcellGSE12603 2108988 2109325 337 0
hScc1 BcellGSE12603 2110401 2110911 510 0
hScc1 BcellGSE12603 2127858 2128070 212 0
hScc1 BcellGSE12603 2128784 2129147 363 0
hScc1 BcellGSE12603 2130988 2131416 428 0
hScc1 BcellGSE12603 2146349 2146776 427 0
hScc1 BcellGSE12603 2150002 2150843 841 0
hScc1 BcellGSE12603 2152134 2152514 380 0
hScc1 BcellGSE12603 2203057 2203533 476 0
hScc1 BcellGSE12603 2206456 2206932 476 0
hScc1 BcellGSE12603 2214858 2216222 1364 0
hScc1 BcellGSE12603 2216557 2216897 340 0
hScc1 BcellGSE12603 2238312 2238751 439 0
hScc1 CdLSGSE12603 2110507 2110911 404 0
hScc1 CdLSGSE12603 2215444 2216222 778 0
hScc1 G2GSE9613 1831319 1831723 404 0
hScc1 G2GSE9613 1832042 1832405 363 0
hScc1 G2GSE9613 1881168 1881822 654 0
hScc1 G2GSE9613 1892342 1892930 588 0
hScc1 G2GSE9613 1904808 1905180 372 0
hScc1 G2GSE9613 1925274 1926195 921 0
hScc1 G2GSE9613 1946697 1946867 170 0
hScc1 G2GSE9613 1954439 1954757 318 0
hScc1 G2GSE9613 1962396 1962896 500 0
hScc1 G2GSE9613 1986028 1986573 545 0
hScc1 G2GSE9613 2014231 2016031 1800 0
hScc1 G2GSE9613 2039143 2039587 444 0
hScc1 G2GSE9613 2041162 2042574 1412 0
hScc1 G2GSE9613 2072289 2073371 1082 0
hScc1 G2GSE9613 2080426 2081571 1145 0
hScc1 G2GSE9613 2130099 2130610 511 0
hScc1 G2GSE9613 2151976 2153765 1789 0
hScc1 G2GSE9613 2215122 2216222 1100 0
p130 SenescentGSE19898 1968139 1968426 287 0
p130 SenescentGSE19898 2120105 2120387 282 0
p130 shRbQuiescentGSE19898 2117830 2118091 261 0
p63 keratinocytesGSE17611 2175865 2176812 947 0
p63 keratinocytesGSE17611 2201599 2202540 941 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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